The UMD-LMNA mutations database
References

This database contains 510 references:

1. 1- Bonne G, Di Barletta MR, Varnous S, Becane HM, Hammouda EH, Merlini L, Muntoni F, Greenberg CR, Gary F, Urtizberea JA, Duboc D, Fardeau M, Toniolo D, Schwartz K. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet 1999 Mar;21(3):285-8


2. 2- Bonne G and Richard P et al. Unpublished data.


3. 3- Pethig K, Genschel J, Peters T, Wilhelmi M, Flemming P, Lochs H, Haverich A, Schmidt HH. LMNA Mutations in Cardiac Transplant Recipients. Cardiology. 2004 Nov 10;103(2):57-62.


4. 4- Brown CA, Lanning RW, McKinney KQ, Salvino AR, Cherniske E, Crowe CA, Darras BT, Gominak S, Greenberg CR, Grosmann C, Heydemann P, Mendell JR, Pober BR, Sasaki T, Shapiro F, Simpson DA, Suchowersky O, Spence JE. Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy. Am J Med Genet 2001 Sep 1;102(4):359-67


5. 5- Bonne G, Mercuri E, Muchir A, Urtizberea A, Becane HM, Recan D, Merlini L, Wehnert M, Boor R, Reuner U, Vorgerd M, Wicklein EM, Eymard B, Duboc D, Penisson-Besnier I, Cuisset JM, Ferrer X, Desguerre I, Lacombe D, Bushby K, Pollitt C, Toniolo D, Fardeau M, Schwartz K, Muntoni F. Clinical and molecular genetic spectrum of autosomal dominant Emery-Dreifuss muscular dystrophy due to mutations of the lamin A/C gene. Ann Neurol 2000 Aug;48(2):170-80


6. 6- Fatkin D, MacRae C, Sasaki T, Wolff MR, Porcu M, Frenneaux M, Atherton J, Vidaillet HJ Jr, Spudich S, De Girolami U, Seidman JG, Seidman C, Muntoni F, Muehle G, Johnson W, McDonough B. Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. N Engl J Med. 1999 Dec 2;341(23):1715-24.


7. 7- Zambrano RM, Baquero Rodríguez R, Martínez Ariza L. Hutchinson-Gilford-progeria syndrome as a cause of short stature. An Pediatr (Barc). 2009 Sep;71(3):273-5. Epub 2009 Jul 21.


8. 8- Owen KR, Donohoe M, Ellard S, Hattersley AT. Response to treatment with rosiglitazone in familial partial lipodystrophy due to a mutation in the LMNA gene. Diabet Med. 2003 Oct;20(10):823-7.


9. 9- Arbustini E, Pilotto A, Repetto A, Grasso M, Negri A, Diegoli M, Campana C, Scelsi L, Baldini E, Gavazzi A, Tavazzi L. Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease. J Am Coll Cardiol. 2002 Mar 20;39(6):981-90.


10. 10- Felice KJ, Schwartz RC, Brown CA, Leicher CR, Grunnet ML. Autosomal dominant Emery-Dreifuss dystrophy due to mutations in rod domain of the lamin A/C gene. Neurology. 2000 Jul 25;55(2):275-80.


11. 11- Anan R, Niimura H, Sasaki T, Tei C. Novel lamin A/C mutation in an autosomal dominant familial dilated cardiomyopathy. Abstract PJ018, Japanese circulation Journal, Vol 65 Suppl I-A, 2001.


12. 12- Jakobs PM, Hanson EL, Crispell KA, Toy W, Keegan H, Schilling K, Icenogle TB, Litt M, Hershberger RE. Novel lamin A/C mutations in two families with dilated cardiomyopathy and conduction system disease. J Card Fail. 2001 Sep;7(3):249-56.


13. 13- Muchir A, Bonne G, van der Kooi AJ, van Meegen M, Baas F, Bolhuis PA, de Visser M, Schwartz K. Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B). Hum Mol Genet. 2000 May 22;9(9):1453-9.


14. 14- Goizet C, Yaou RB, Demay L, Richard P, Bouillot S, Rouanet M, Hermosilla E, Le Masson G, Lagueny A, Bonne G, Ferrer X. A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia. J Med Genet. 2004 Mar;41(3):e29.


15. 15- Raffaele Di Barletta M, Ricci E, Galluzzi G, Tonali P, Mora M, Morandi L, Romorini A, Voit T, Orstavik KH, Merlini L, Trevisan C, Biancalana V, Housmanowa-Petrusewicz I, Bione S, Ricotti R, Schwartz K, Bonne G, Toniolo D. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet. 2000 Apr;66(4):1407-12.


16. 16- Brodsky GL, Muntoni F, Miocic S, Sinagra G, Sewry C, Mestroni L. Lamin A/C gene mutation associated with dilated cardiomyopathy with variable skeletal muscle involvement. Circulation. 2000 Feb 8;101(5): 473-6.


17. 17- Colomer J, Iturriaga C, Bonne G, Schwartz K, Manilal S, Morris GE, Puche M, Fernandez-Alvarez E. Autosomal dominant Emery-Dreifuss muscular dystrophy: A late suspected diagnosis. Neuromusc Disord, 2002, 12: 18-24.


18. 18- Speckman RA, Garg A, Du F, Bennett L, Veile R, Arioglu E, Taylor SI, Lovett M, Bowcock AM. Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C. Am J Hum Genet. 2000 Apr;66(4): 1192-8.


19. 19- Perrot A, Sigusch HH, Nagele H, Genschel J, Lehmkuhl H, Hetzer R, Geier C, Leon Perez V, Reinhard D, Dietz R, Josef Osterziel K, Schmidt HH. Genetic and phenotypic analysis of dilated cardiomyopathy with conduction system disease: Demand for strategies in the management of presymptomatic lamin A/C mutant carriers. Eur J Heart Fail. 2006 Aug; 8(5): 484-93. Epub 2006 Jan 4.


20. 20- Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwartz K, Bonne G. A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block. Neuromuscul Disord. 2001 Sep; 11(6-7): 542-6.


21. 21- Shackleton S, Lloyd DJ, Jackson SN, Evans R, Niermeijer MF, Singh BM, Schmidt H, Brabant G, Kumar S, Durrington PN, Gregory S, O'Rahilly S, Trembath RC. LMNA, encoding lamin A/C, is mutated in partial lipodystrophy. Nat Genet. 2000 Feb;24(2):153-6.


22. 22- Vigouroux C, Magre J, Vantyghem MC, Bourut C, Lascols O, Shackleton S, Lloyd DJ, Guerci B, Padova G, Valensi P, Grimaldi A, Piquemal R, Touraine P, Trembath RC, Capeau J. Lamin A/C gene: sex-determined expression of mutations in Dunnigan-type familial partial lipodystrophy and absence of coding mutations in congenital and acquired generalized lipoatrophy. Diabetes. 2000 Nov;49(11):1958-62.


23. 23- Hegele RA, Cao H, Anderson CM, Hramiak IM. Heterogeneity of nuclear lamin A mutations in Dunnigan-type familial partial lipodystrophy. J Clin Endocrinol Metab. 2000 Sep;85(9):3431-5.


24. 24- Cao H, Hegele RA. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum Mol Genet. 2000 Jan 1;9(1):109-12.


25. 25- Forissier JF, Bonne G, Bouchier C, Duboscq-Bidot L, Richard P, Wisnewski C, Briault S, Moraine C, Dubourg O, Schwartz K, Komajda M. Apical left ventricular aneurysm without atrio-ventricular block due to a lamin A/C gene mutation. Eur J Heart Fail. 2003 Dec;5(6):821-5.


26. 26- Genschel J, Bochow B, Kuepferling S, Ewert R, Hetzer R, Lochs H, Schmidt H. A R644C mutation within lamin A extends the mutations causing dilated cardiomyopathy. Hum Mutat. 2001 Feb;17(2):154.


27. 27- Garg A, Speckman RA, Bowcock AM. Multisystem dystrophy syndrome due to novel missense mutations in the amino-terminal head and alpha-helical rod domains of the lamin A/C gene. Am J Med. 2002 May;112(7):549-55.


28. 28- Todorova A, Halliger-Keller B, Walter MC, Dabauvalle MC, Lochmuller H, Muller CR. A synonymous codon change in the LMNA gene alters mRNA splicing and causes limb girdle muscular dystrophy type 1B. J Med Genet. 2003 Oct;40(10):e115.


29. 29- De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N. Homozygous Defects in LMNA, Encoding Lamin A/C Nuclear-Envelope Proteins, Cause Autosomal Recessive Axonal Neuropathy in Human (Charcot- Marie-Tooth Disorder Type 2) and Mouse. Am. J. Hum. Genet. 2002 70 :


30. 30- Vytopil M, Benedetti S, Ricci E, Galluzzi G, Dello Russo A, Merlini L, Boriani G, Gallina M, Morandi L, Politano L, Moggio M, Chiveri L, Hausmanowa-Petrusewicz I, Ricotti R, Vohanka S, Toman J, Toniolo D. Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes. J Med Genet. 2003 Dec;40(12):E132.


31. 31- Vytopil M, Ricci E, Dello Russo A, Hanisch F, Neudecker S, Zierz H, Ricotti R, Demay L, Richard P, Wehnert M, Bonne G, Merlini L, Toniolo D. Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss Muscular Dystrophy. Neuromuscul Disord. 2002 Dec; 12(10): 958-63.


32. 32- Hayashi YK et al. Unpublished data.


33. 33- Ki CS, Hong JS, Jeong GY, Ahn KJ, Choi KM, Kim DK, Kim JW. Identification of lamin A/C ( LMNA) gene mutations in Korean patients with autosomal dominant Emery-Dreifuss muscular dystrophy and limb-girdle muscular dystrophy 1B. J Hum Genet. 2002 May;47(5):225-8.


34. 34- Novelli G, Muchir A, Sangiuolo F, Helbling-Leclerc A, D'Apice MR, Massart C, Capon F, Sbraccia P, Federici M, Lauro R, Tudisco C, Pallotta R, Scarano G, Dallapiccola B, Merlini L, Bonne G. Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C. Am J Hum Genet. 2002 Aug;71(2):426-31.


35. 35- Chaouch M, Allal Y, De Sandre-Giovannoli A, Vallat JM, Amer-el-Khedoud A, Kassouri N, Chaouch A, Sindou P, Hammadouche T, Tazir M, Levy N, Grid D. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene. Neuromuscul Disord 2003 Jan;13(1):60-7


36. 36- Hegele RA, Anderson CM, Cao H. Lamin A/C mutation in a woman and her two daughters with Dunnigan-type partial lipodystrophy and insulin resistance. Diabetes Care 2000 Feb;23(2):258-9


37. 37- Garg A, Vinaitheerthan M, Weatherall PT, Bowcock AM. Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. J Clin Endocrinol Metab 2001 Jan;86(1):59-65


38. 38- Schmidt HH, Genschel J, Baier P, Schmidt M, Ockenga J, Tietge UJ, Propsting M, Buttner C, Manns MP, Lochs H, Brabant G. Dyslipemia in familial partial lipodystrophy caused by an R482W mutation in the LMNA gene. J Clin Endocrinol Metab 2001 May;86(5):2289-95


39. 39- Onishi Y, Higuchi J, Ogawa T, Namekawa A, Hayashi H, Odakura H, Goto K, Hayashi YK. The first Japanese case of autosomal dominant Emery-Dreifuss muscular dystrophy with a novel mutation in the lamin A/C gene. Rinsho Shinkeigaku 2002 Feb;42(2):140-4


40. 40- Hermida-Prieto M, Monserrat L, Castro-Beiras A, Laredo R, Soler R, Peteiro J, Rodriguez E, Bouzas B, Alvarez N, Muniz J, Crespo-Leiro M. Familial dilated cardiomyopathy and isolated left ventricular noncompaction associated with lamin A/C gene mutations. Am J Cardiol. 2004 Jul 1;94(1):50-4.


41. 41- van der Kooi AJ, Bonne G, Eymard B, Duboc D, Talim B, Van der Valk M, Reiss P, Richard P, Demay L, Merlini L, Schwartz K, Busch HF, de Visser M. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy. Neurology 2002 Aug 27;59(4):620-3


42. 42- Hershberger RE, Hanson EL, Jakobs PM, Keegan H, Coates K, Bousman S, Litt M. A novel lamin A/C mutation in a family with dilated cardiomyopathy, prominent conduction system disease, and need for permanent pacemaker implantation. Am Heart J 2002 Dec;144(6):1081-6


43. 43- Verga L, Concardi M, Pilotto A, Bellini O, Pasotti M, Repetto A, Tavazzi L, Arbustini E. Loss of lamin A/C expression revealed by immuno-electron microscopy in dilated cardiomyopathy with atrioventricular block caused by LMNA gene defects. Virchows Arch. 2003 Nov;443(5):664-71. Epub 2003 Jul 26.


44. 44- Caux F, Dubosclard E, Lascols O, Buendia B, Chazouilleres O, Cohen A, Courvalin JC, Laroche L, Capeau J, Vigouroux C, Christin-Maitre S. A new clinical condition linked to a novel mutation in lamins a and C with generalized lipoatrophy, insulin-resistant diabetes, disseminated leukomelanodermic papules, liver steatosis, and cardiomyopathy. J Clin Endocrinol Metab 2003 Mar;88(3):1006-13


45. 45- Taylor MR, Fain PR, Sinagra G, Robinson ML, Robertson AD, Carniel E, Di Lenarda A, Bohlmeyer TJ, Ferguson DA, Brodsky GL, Boucek MM, Lascor J, Moss AC, Li WL, Stetler GL, Muntoni F, Bristow MR, Mestroni L. Natural history of dilated cardiomyopathy due to lamin A/C gene mutations. J Am Coll Cardiol 2003 Mar 5;41(5):771-80


46. 46- Boriani G, Gallina M, Merlini L, Bonne G, Toniolo D, Amati S, Biffi M, Martignani C, Frabetti L, Bonvicini M, Rapezzi C, Branzi A. Clinical relevance of atrial fibrillation/flutter, stroke, pacemaker implant, and heart failure in Emery-Dreifuss muscular dystrophy: a long-term longitudinal study. Stroke 2003 Apr;34(4):901-8


47. 47- De Sandre-Giovannoli A, Bernard R, Cau P, Navarro C, Amiel J, Boccaccio I, Lyonnet S, Stewart CL, Munnich A, Le Merrer M, Levy N. Lamin A Truncation in Hutchinson-Gilford Progeria. Science. 2003 Jun 27;300(5628):2055. Epub 2003 Apr 17.


48. 48- Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, Scott L, Erdos MR, Robbins CM, Moses TY, Berglund P, Dutra A, Pak E, Durkin S, Csoka AB, Boehnke M, Glover TW, Collins FS. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003 May 15;423(6937):293-8. Epub 2003 Apr 25.


49. 49- Cao H, Hegele RA. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet. 2003;48(5):271-4. Epub 2003 Apr 03.


50. 50- Simha V, Agarwal AK, Oral EA, Fryns JP, Garg A. Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J Clin Endocrinol Metab. 2003 Jun;88(6):2821-4.


51. 51- Charniot JC, Pascal C, Bouchier C, Sebillon P, Salama J, Duboscq-Bidot L, Peuchmaurd M, Desnos M, Artigou JY, Komajda M. Functional consequences of an LMNA mutation associated with a new cardiac and non-cardiac phenotype. Hum Mutat. 2003 May;21(5):473-81.


52. 52- MacLeod HM, Culley MR, Huber JM, McNally EM. Lamin A/C truncation in dilated cardiomyopathy with conduction disease. BMC Med Genet. 2003 Jul 10;4:4.


53. 53- Sebillon P, Bouchier C, Bidot LD, Bonne G, Ahamed K, Charron P, Drouin-Garraud V, Millaire A, Desrumeaux G, Benaiche A, Charniot JC, Schwartz K, Villard E, Komajda M. Expanding the phenotype of LMNA mutations in dilated cardiomyopathy and functional consequences of these mutations. J Med Genet. 2003 Aug;40(8):560-7.


54. 54- Chen L, Lee L, Kudlow BA, Dos Santos HG, Sletvold O, Shafeghati Y, Botha EG, Garg A, Hanson NB, Martin GM, Mian IS, Kennedy BK, Oshima J. LMNA mutations in atypical Werner's syndrome. Lancet. 2003 Aug 9;362(9382):440-5.


55. 55- Araujo-Vilar D, Loidi L, Dominguez F, Cabezas-Cerrato J. Phenotypic Gender Differences in Subjects With Familial Partial Lipodystrophy (Dunnigan Variety) Due to a Nuclear Lamin A/C R482W Mutation. Horm Metab Res. 2003 Jan;35(1):29-35.


56. 56- Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C. Brain. 2004 Jan; 127 (Pt 1): 154-63. Epub 2003 Nov 7.


57. 57- Shen JJ, Brown CA, Lupski JR, Potocki L. Mandibuloacral dysplasia caused by homozygosity for the R527H mutation in lamin A/C. J Med Genet. 2003 Nov;40(11):854-7.


58. 58- Benedetti S, Bertini E, Iannaccone S, Angelini C, Trisciani M, Toniolo D, Sferrazza B, Carrera P, Comi G, Ferrari M, Quattrini A, Previtali SC. Dominant LMNA mutations can cause combined muscular dystrophy and peripheral neuropathy. J Neurol Neurosurg Psychiatry. 2005 Jul;76(7):1019-21.


59. 59- D'Apice MR, Tenconi R, Mammi I, van den Ende J, Novelli G. Paternal origin of LMNA mutations in Hutchinson-Gilford progeria. Clin Genet. 2004 Jan;65(1):52-4.


60. 60- van Tintelen JP, Hofstra RM, Katerberg H, Rossenbacker T, Wiesfeld AC, du Marchie Sarvaas GJ, Wilde AA, van Langen IM, Nannenberg EA, van der Kooi AJ, Kraak M, van Gelder IC, van Veldhuisen DJ, Vos Y, van den Berg MP; Working Group on Inherited Cardiac Disorders, line 27/50, Interuniversity Cardiology Institute of The Netherlands. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J. 2007 Dec;154(6):1130-9.


61. 61- Renou L, Stora S, Yaou RB, Volk M, Sinkovec M, Demay L, Richard P, Peterlin B, Bonne G. Heart-hand syndrome of Slovenian type: a new kind of laminopathy. J Med Genet. 2008 Oct;45(10):666-71. Epub 2008 Jul 8.


62. 62- Becane HM, Bonne G, Varnous S, Muchir A, Ortega V, Hammouda EH, Urtizberea JA, Lavergne T, Fardeau M, Eymard B, Weber S, Schwartz K, Duboc D. High incidence of sudden death with conduction system and myocardial disease due to lamins A and C gene mutation. Pacing Clin Electrophysiol. 2000 Nov;23(11 Pt 1):1661-6.


63. 63- Vantyghem MC, Pigny P, Maurage CA, Rouaix-Emery N, Stojkovic T, Cuisset JM, Millaire A, Lascols O, Vermersch P, Wemeau JL, Capeau J, Vigouroux C. Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. J Clin Endocrinol Metab. 2004 Nov;89(11):5337-46.


64. 64- Savage DB, McFarlane I, Barroso I, Soos MA, Powlson A, Thomas EL, Bell JD, Scobie I, Belchetz PE, Kelly WF, Halsall DJ, Schafer AJ, O'Rahilly S. Familial partial lipodystrophy associated with compound heterozygosity for novel mutations in the LMNA gene. Diabetologia. 2004 Apr;47(4):753-6.


65. 65- Reichart B 1st, Klafke R 1st, Dreger C 2nd, Krueger E 1st, Motsch I 1st, Ewald A 1st, Schaefer J 3rd, Reichmann H 3rd, Mueller CR 4th, Dabauvalle MC 1st. Expression and localization of nuclear proteins in autosomal-dominant Emery-Dreifuss muscular dystrophy with LMNA R377H mutation. BMC Cell Biol. 2004 Mar 30;5(1):12.


66. 66- Csoka AB, Cao H, Sammak PJ, Constantinescu D, Schatten GP, Hegele RA. Novel lamin A/C gene (LMNA) mutations in atypical progeroid syndromes. J Med Genet. 2004 Apr;41(4):304-8.


67. 67- Satu Karkkainen, Tiina Heli¤o, Raija Miettinen, Petri Tuomainen, Paula Peltola, Juha Rummukainen, Kari Ylitalo, Maija Kaartinen, Johanna Kuusisto, Lauri Toivonen, Markku S. Nieminen, Markku Laakso, Keijo Peuhkurinen. A novel mutation, Ser143Pro, in the lamin A/C gene is common in finnish patients with familial dilated cardiomyopathy. Eur J Heart Fail. 2004 Dec;6(7):861-8.


68. 68- Kichuk Chrisant MR, Drummond-Webb J, Hallowell S, Friedman NR. Cardiac transplantation in twins with autosomal dominant Emery-Dreifuss muscular dystrophy. J Heart Lung Transplant. 2004 Apr;23(4):496-8.


69. 69- Fukuchi K, Katsuya T, Sugimoto K, Kuremura M, Kim HD, Li L, Ogihara T. LMNA mutation in a 45 year old Japanese subject with Hutchinson-Gilford progeria syndrome. J Med Genet. 2004 May;41(5):E67.


70. 70- Mercuri E, Poppe M, Quinlivan R, Messina S, Kinali M, Demay L, Bourke J, Richard P, Sewry C, Pike M, Bonne G, Muntoni F, Bushby K. Extreme variability of phenotype in patients with an identical missense mutation in the lamin a/c gene: from congenital onset with severe phenotype to milder classic emery-dreifuss variant. Arch Neurol. 2004 May;61(5):690-4.


71. 71- Anita M. Arola, Hua Li, Ross Murphy, William J. McKenna, Neil E. Bowles and Jeffrey A. Towbin. Clinical significance of lamin A/C mutations in dilated cardiomyopathy. ABSTRACT, Journal of the American College of Cardiology, Volume 43, Issue 5, Supplement 1, 3 March 2004, Page A231.


72. 72- Plasilova M, Chattopadhyay C, Pal P, Schaub NA, Buechner SA, Mueller H, Miny P, Ghosh A, Heinimann K. Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. J Med Genet. 2004 Aug;41(8):609-14.


73. 73- Wehnert et al. Unpublished data.


74. 74- Sylvius N, Bilinska ZT, Veinot JP, Fidzianska A, Bolongo PM, Poon S, McKeown P, Davies RA, Chan KL, Tang AS, Dyack S, Grzybowski J, Ruzyllo W, McBride H, Tesson F. In vivo and in vitro examination of the functional significances of novel lamin gene mutations in heart failure patients. J Med Genet. 2005 Aug;42(8):639-47.


75. 75- Muchir A, Medioni J, Laluc M, Massart C, Arimura T, Kooi AJ, Desguerre I, Mayer M, Ferrer X, Briault S, Hirano M, Worman HJ, Mallet A, Wehnert M, Schwartz K, Bonne G. Nuclear envelope alterations in fibroblasts from patients with muscular dystrophy, cardiomyopathy, and partial lipodystrophy carrying lamin A/C gene mutations. Muscle Nerve. 2004 Oct;30(4):444-50.


76. 76- S. Spuler, T. Kalbhenn, H.J. Schmidt. Myopathy in patients with familial partial lipodystrophy due to LMNA mutations. Abstract. Neuromuscular Disorders, 2004, Volume 14, Issues 8-9, Page 591.


77. 77- J. Colomer, P. Sabatelli, M. Columbaro, A. Nascimiento, A. Diaz, L. Merlini. Clinical spectrum of Emery-Dreifuss muscular dystrophy 2 (EDMD2): report of 6 patiens. Abstract. Neuromuscular Disorders, 2004, Volume 14, Issues 8-9, Page 591.


78. 78- Wehnert MS, Feuer A, Wasner C, Hoeltzenbein M. Novel P485R mutation in LMNA presenting with features of a progeroid syndrome. Abstract G.P.9.03, Neuromuscular Disorders, 2004, Volume 14, Issues 8-9, Page 591-592.


79. 79- R. Ben Yaou, H.M. Bécane, L. Demay, P. Laforet, D. Hannequin, P.A. Bohu, V. Drouin-Garraud, X. Ferrer, J.M. Mussini, E. Ollagnon, P. Petiot, I. Penisson-Besnier, .Streichenberger, A. Toutain, P. Richard, B. Eymard, G. Bonne. La dystrophie musculaire des ceintures autosomique dominante associée à des troubles de la conduction cardiaque (LGMD1B). Description de 8 nouvelles familles avec muta-tions du gène LMNA. Rev Neurol (Paris). 2005 Jan;161(1):42-54.


80. 80- Walter MC, Witt TN, Weigel BS, Reilich P, Richard P, Pongratz D, Bonne G, Wehnert MS, Lochmuller H. Deletion of the LMNA initiator codon leading to a neurogenic variant of autosomal dominant Emery-Dreifuss muscular dystrophy. Neuromuscul Disord. 2005 Jan;15(1):40-4.


81. 81- Kirschner J, Brune T, Wehnert M, Denecke J, Wasner C, Feuer A, Marquardt T, Ketelsen UP, Wieacker P, Bonnemann CG, Korinthenberg R. p.S143F mutation in lamin A/C: a new phenotype combining myopathy and progeria. Ann Neurol. 2005 Jan;57(1):148-51.


82. 82- Navarro CL, De Sandre-Giovannoli A, Bernard R, Boccaccio I, Boyer A, Genevieve D, Hadj-Rabia S, Gaudy-Marqueste C, Smitt HS, Vabres P, Faivre L, Verloes A, Van Essen T, Flori E, Hennekam R, Beemer FA, Laurent N, Le Merrer M, Cau P, Levy N. Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy. Hum Mol Genet. 2004 Oct 15;13(20):2493-503.


83. 83- van Engelen BG, Muchir A, Hutchison CJ, van der Kooi AJ, Bonne G, Lammens M. The lethal phenotype of a homozygous nonsense mutation in the lamin A/C gene. Neurology. 2005 Jan 25;64(2):374-6.


84. 84- S. Brette, I. Penisson-Besnier, J.M. Dupuis, G. Bonne et J. Victor. Manifestations cardiaques des laminopathies. Arch Mal Coeur Vaiss. 2004 Oct;97(10):973-7.


85. 85- Santos et al. Unpublished data.


86. 86- Redondo-Vergé L, Yaou RB, Fernández-Recio M, Dinca L, Richard P, Bonne G. Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy. Muscle Nerve. 2011 Oct;44(4):587-9. doi: 10.1002/mus.22179.


87. 87- Mercuri E, Brown SC, Nihoyannopoulos P, Poulton J, Kinali M, Richard P, Piercy RJ, Messina S, Sewry C, Burke MM, McKenna W, Bonne G, Muntoni F. Extreme variability of skeletal and cardiac muscle involvement in patients with mutations in exon 11 of the lamin A/C gene. Muscle Nerve. 2005 May;31(5):602-9.


88. 88- Otomo J, Kure S, Shiba T, Karibe A, Shinozaki T, Yagi T, Naganuma H, Tezuka F, Miura M, Ito M, Watanabe J, Matsubara Y, Shirato K. Electrophysiological and histopathological characteristics of progressive atrioventricular block accompanied by familial dilated cardiomyopathy caused by a novel mutation of lamin A/C gene. Cardiovasc Electrophysiol. 2005 Feb;16(2):137-45.


89. 89- Sevenants L, Wouters C, De Sandre-Giovannoli A, Devlieger H, Devriendt K, van den Oord JJ, Marien K, Lévy N and Morren M. Tight skin and limited joint movements as early presentation of Hutchinson-Gilford progeria in a 7-week-old infant. Eur J Pediatr. 2005 May;164(5):283-6. Epub 2005 Feb 22.


90. 90- Wuyts W, Biervliet M, Reyniers E, D'Apice MR, Novelli G, Storm K. Somatic and gonadal mosaicism in Hutchinson-Gilford progeria. Am J Med Genet A. 2005 May 15;135(1):66-8.


91. 91- Spuler S, Geier C, Osterziel KJ, Gutberlet M, Genschel J, Lehmann TN, Zinn-Justin S, Gilquin B, Schmidt H. A new LMNA mutation causing limb girdle muscular dystrophy 1B. J Neurol. 2005 May;252(5):621-3. Epub 2005 Mar 29.


92. 92- Higuchi Y, Hongou M, Ozawa K, Kokawa H, Masaki M. A family of emery-dreifuss muscular dystrophy with extreme difference in severity. Pediatr Neurol. 2005 May;32(5):358-60.


93. 93- Young J, Morbois-Trabut L, Couzinet B, Lascols O, Dion E, Bereziat V, Feve B, Richard I, Capeau J, Chanson P, Vigouroux C. Type a insulin resistance syndrome revealing a novel lamin a mutation. Diabetes. 2005 Jun;54(6):1873-8.


94. 94- D'Amico A, Haliloglu G, Richard P, Talim B, Maugenre S, Ferreiro A, Guicheney P, Menditto I, Benedetti S, Bertini E, Bonne G, Topaloglu H. Two patients with 'Dropped head syndrome' due to mutations in LMNA or SEPN1 genes. Neuromuscul Disord. 2005 Aug;15(8):521-4.


95. 95- Garg A, Cogulu O, Ozkinay F, Onay H, Agarwal AK. A novel homozygous Ala529Val LMNA mutation in Turkish patients with mandibuloacral dysplasia. J Clin Endocrinol Metab. 2005 Sep;90(9):5259-64. Epub 2005 Jul 5.


96. 96- Van Esch H, Agarwal AK, Debeer P, Fryns JP, Garg A. A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. J Clin Endocrinol Metab. 2006 Feb;91(2):517-21. Epub 2005 Nov 8.


97. 97- Wang H, Wang J, Zheng W, Wang X, Wang S, Song L, Zou Y, Yao Y, Hui R. Mutation Glu82Lys in lamin A/C gene is associated with cardiomyopathy and conduction defect. Biochem Biophys Res Commun. 2006 May 26;344(1):17-24.


98. 98- Pegoraro E, Gavassini BF, Benedetti S, Menditto I, Zara G, Padoan R, Mostacciuolo ML, Ferrari M, Angelini C. Co-segregation of LMNA and PMP22 gene mutations in the same family. Neuromuscul Disord. 2005 Dec;15(12):858-62. Epub 2005 Nov 8.


99. 99- D'Amico A, Benedetti S, Petrini S, Sambuughin N, Boldrini R, Menditto I, Ferrari M, Verardo M, Goldfarb L, Bertini E. Major myofibrillar changes in early onset myopathy due to de novo heterozygous missense mutation in lamin A/C gene. Neuromuscul Disord. 2005 Dec;15(12):847-50. Epub 2005 Nov 8.


100. 100- De Sandre Giovannoli & Levy et al. Unpublished data.


101. 101- Ludtke A, Genschel J, Brabant G, Bauditz J, Taupitz M, Koch M, Wermke W, Worman HJ, Schmidt HH. Hepatic steatosis in Dunnigan-type familial partial lipodystrophy. Am J Gastroenterol. 2005 Oct;100(10):2218-24.


102. 102- Bakay M, Wang Z, Melcon G, Schiltz L, Xuan J, Zhao P, Sartorelli V, Seo J, Pegoraro E, Angelini C, Shneiderman B, Escolar D, Chen YW, Winokur ST, Pachman LM, Fan C, Mandler R, Nevo Y, Gordon E, Zhu Y, Dong Y, Wang Y, Hoffman EP. Nuclear envelope dystrophies show a transcriptional fingerprint suggesting disruption of Rb-MyoD pathways in muscle regeneration. Brain. 2006 Apr;129(Pt 4):996-1013. Epub 2006 Feb 14.


103. 103- Karkkainen S, Reissell E, Helio T, Kaartinen M, Tuomainen P, Toivonen L, Kuusisto J, Kupari M, Nieminen MS, Laakso M, Peuhkurinen K. Novel mutations in the lamin A/C gene in heart transplant recipients with end stage dilated cardiomyopathy. Heart. 2006 Apr;92(4):524-6.


104. 104- Morel CF, Thomas MA, Cao H, O'Neil CH, Pickering JG, Foulkes WD, Hegele RA. A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy type 2. J Clin Endocrinol Metab. 2006 Jul;91(7):2689-95. Epub 2006 Apr 24.


105. 105- Denecke J, Brune T, Feldhaus T, Robenek H, Kranz C, Auchus RJ, Agarwal AK, Marquardt T. A homozygous ZMPSTE24 null mutation in combination with a heterozygous mutation in the LMNA gene causes Hutchinson-Gilford progeria syndrome (HGPS): insights into the pathophysiology of HGPS. Hum Mutat. 2006 Jun;27(6):524-31.


106. 106- Muntoni F, Bonne G, Goldfarb LG, Mercuri E, Piercy RJ, Burke M, Yaou RB, Richard P, Recan D, Shatunov A, Sewry CA, Brown SC. Disease severity in dominant Emery Dreifuss is increased by mutations in both emerin and desmin proteins. Brain. 2006 May;129(Pt 5):1260-8. Epub 2006 Apr 3.


107. 107- Verstraeten VL, Broers JL, van Steensel MA, Zinn-Justin S, Ramaekers FC, Steijlen PM, Kamps M, Kuijpers HJ, Merckx D, Smeets HJ, Hennekam RC, Marcelis CL, van den Wijngaard A. Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. Hum Mol Genet. 2006 Aug 15;15(16):2509-22.


108. 108- Fujimori Y, Okimatsu H, Kashiwagi T, Sanda N, Okumura K, Takagi A, Nagata K, Murate T, Uchida A, Node K, Saito H, Kojima T. Molecular defects associated with antithrombin deficiency and dilated cardiomyopathy in a Japanese patient. Intern Med. 2008;47(10):925-31. Epub 2008 May 15.


109. 109- Johan T. den Dunnen et al. LMNA sequence variations. In Leiden Muscular Dystrophy pages. See also: Fokkema IF, den Dunnen JT, Taschner PE. LOVD: easy creation of a locus-specific sequence variation database using an "LSDB-in-a-box" approach. Hum Mutat. 2005 Aug;26(2):63-8.


110. 110- Lenora M Lehwald; Deborah L Renaud; Norbert G Campeau; Dusica Babovic-Vuksanovic. Novel LMNA mutation in a patient with progeroid phenotype. Journal of pediatric neurology 5(2007) 143-148.


111. 111- Rudnik-Schoneborn S, Botzenhart E, Eggermann T, Senderek J, Schoser BG, Schroder R, Wehnert M, Wirth B, Zerres K. Mutations of the LMNA gene can mimic autosomal dominant proximal spinal muscular atrophy. Neurogenetics. 2007 Apr;8(2):137-42.


112. 112- Nguyen D, Leistritz DF, Turner L, MacGregor D, Ohson K, Dancey P, Martin GM, Oshima J. Collagen expression in fibroblasts with a novel LMNA mutation. Biochem Biophys Res Commun. 2007 Jan 19;352(3):603-8. Epub 2006 Nov 27.


113. 113- Lanktree M, Cao H, Rabkin SW, Hanna A, Hegele RA. Novel LMNA mutations seen in patients with familial partial lipodystrophy subtype 2 (FPLD2; MIM 151660). Clin Genet. 2007 Feb;71(2):183-6.


114. 114- Quijano-Roy S, Mbieleu B, Bönnemann CG, Jeannet PY, Colomer J, Clarke NF, Cuisset JM, Roper H, De Meirleir L, D'Amico A, Ben Yaou R, Nascimento A, Barois A, Demay L, Bertini E, Ferreiro A, Sewry CA, Romero NB, Ryan M, Muntoni F, Guicheney P, Richard P, Bonne G, Estournet B. De novo LMNA mutations cause a new form of congenital muscular dystrophy. Ann Neurol. 2008 Aug;64(2):177-86.


115. 115- Mittelbronn M, Hanisch F, Gleichmann M, Stotter M, Korinthenberg R, Wehnert M, Bonne G, Rudnik-Schoneborn S, Bornemann A. Myofiber degeneration in autosomal dominant Emery-Dreifuss muscular dystrophy (AD-EDMD) (LGMD1B). Brain Pathol. 2006 Oct;16(4):266-72.


116. 116- Fidzianska A, Glinka Z. Rimmed vacuoles with beta-amyloid and tau protein deposits in the muscle of children with hereditary myopathy. Acta Neuropathol. 2006 Aug;112(2):185-93. Epub 2006 Jun 21.


117. 117- Garin B, Richard P and Bonne G. Unpublished data.


118. 118- Arbustini EA, Pasotti M, Pilotto A, Repetto A, Grasso M, Diegoli M. Gene symbol: CMD1A. Disease: Dilated cardiomyopathy associated with conduction system disease. Hum Genet. 2005 Jul;117(2-3):295.


119. 119- Arbustini Eloisa AE, Pilotto A, Pasotti M, Grasso M, Diegoli M, Campana C, Gavazzi A, Alessandra R, Tavazzi L. Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1. Hum Genet. 2005 Jul;117(2-3):298.


120. 120- Arbustini Eloisa AE, Pilotto A, Porcu E, Landolina M, Pasotti M, Lucchelli C, Disabella E, Tavazzi L.Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction tissue defect 1.Hum Genet. 2005 Jul;117(2-3):300.


121. 121- Arbustini EA, Pasotti M, Pilotto A, Grasso M, Porcu E, Tocco G, Marziliano N. Gene symbol:LMNA. Disease:Emery-Dreifuss muscular dystrophy EMD. Hum Genet. 2007 Feb;120(6):907-8.


122. 122- Arbustini E, Pasotti M, Pilotto A, Diegoli M, Brega A, Disabella E, Grasso M, Marziliano N. Gene symbol: LMNA. Disease: Dilated cardiomyopathy with conduction defect CMD1A. In Novel human pathological mutations, Hum Genet. 2007 Feb;120(6):910.


123. 123- Pasotti M, Klersy C, Pilotto A, Marziliano N, Rapezzi C, Serio A, Mannarino S, Gambarin F, Favalli V, Grasso M, Agozzino M, Campana C, Gavazzi A, Febo O, Marini M, Landolina M, Mortara A, Piccolo G, Viganò M, Tavazzi L, Arbustini E. Long-term outcome and risk stratification in dilated cardiolaminopathies. J Am Coll Cardiol. 2008 Oct 7


124. 124- Nakamura S, Makita Y, Takagi A, Hashimoto Y, Takahashi H, Ishida-Yamamoto A, Iizuka H. Hutchinson-Gilford progeria syndrome with severe skin calcinosis. Clin Exp Dermatol. 2007 Sep;32(5):525-8. Epub 2007 Apr 24.


125. 125- Liang WC, Yuo CY, Liu CY, Lee CS, Goto K, Hayashi YK, Jong YJ.Novel LMNA mutation in a Taiwanese family with autosomal dominant Emery-Dreifuss muscular dystrophy.J Formos Med Assoc. 2007 Feb;106(2 Suppl):S27-31.


126. 126- Vantyghem MC, Faivre-Defrance F, Marcelli-Tourvieille S, Fermon C, Evrard A, Bourdelle-Hego MF, Vigouroux C, Defebvre L, Delemer B, Wemeau JL.Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism.Clin Endocrinol (Oxf). 2007 Aug;67(2):247-9. Epub 2007 May 24.


127. 127- Mazereeuw-Hautier J, Wilson LC, Mohammed S, Smallwood D, Shackleton S, Atherton DJ, Harper JI.Hutchinson-Gilford progeria syndrome: clinical findings in three patients carrying the G608G mutation in LMNA and review of the literature.Br J Dermatol. 2007 Jun;156(6):1308-14. Epub 2007 Apr 25.


128. 128- Moulson CL, Fong LG, Gardner JM, Farber EA, Go G, Passariello A, Grange DK, Young SG, Miner JH. Increased progerin expression associated with unusual LMNA mutations causes severe progeroid syndromes. Hum Mutat. 2007 Sep;28(9):882-9.


129. 129- Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families. Brain. 2007 Apr;130(Pt 4):1062-75. Epub 2007 Mar 8.


130. 130- Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC. Phenotypic clustering of lamin A/C mutations in neuromuscular patients. Neurology. 2007 Sep 18;69(12):1285-92. Epub 2007 Mar 21.


131. 131- van Tintelen JP, Tio RA, Kerstjens-Frederikse WS, van Berlo JH, Boven LG, Suurmeijer AJ, White SJ, den Dunnen JT, te Meerman GJ, Vos YJ, van der Hout AH, Osinga J, van den Berg MP, van Veldhuisen DJ, Buys CH, Hofstra RM, Pinto YM. Severe myocardial fibrosis caused by a deletion of the 5' end of the lamin A/C gene. J Am Coll Cardiol. 2007 Jun 26;49(25):2430-9. Epub 2007 Jun 11.


132. 132- Smith GC, Kinali M, Prasad SK, Bonne G, Muntoni F, Pennell DJ, Nihoyannopoulos P. Primary myocardial dysfunction in autosomal dominant EDMD. A tissue doppler and cardiovascular magnetic resonance study. J Cardiovasc Magn Reson. 2006;8(5):723-30.


133. 133- Ben Yaou R, Toutain A, Arimura T, Demay L, Massart C, Peccate C, Muchir A, Llense S, Deburgrave N, Leturcq F, Litim KE, Rahmoun-Chiali N, Richard P, Babuty D, Recan-Budiartha D, Bonne G. Multitissular involvement in a family with LMNA and EMD mutations: Role of digenic mechanism? Neurology. 2007 May 29;68(22):1883-94.


134. 134- Rudenskaya GE, Polyakov AV, Tverskaya SM, Zaklyazminskaya EV, Chukhrova AL, Groznova OE, Ginter EK. Laminopathies in Russian families. Clin Genet. 2008 Aug;74(2):127-33. Epub 2008 Jun 28.


135. 135- Shalev SA, De Sandre-Giovannoli A, Shani AA, Levy N. An association of Hutchinson-Gilford progeria and malignancy. Am J Med Genet A. 2007 Aug 15;143(16):1821-6.


136. 136- Antoniades L, Eftychiou C, Kyriakides T, Christodoulou K, Katritsis DG. Malignant mutation in the lamin A/C gene causing progressive conduction system disease and early sudden death in a family with mild form of limb-girdle muscular dystrophy. J Interv Card Electrophysiol. 2007 Jun;19(1):1-7. Epub 2007 Jun 29.


137. 137- Mutesa L, Pierquin G, Cwiny-Ay N, Buzizi P, Bours V. Hutchinson-Gilford progeria syndrome: clinical and molecular analysis in an African patient. Rev Med Liege. 2007 Mar;62(3):155-8.


138. 138- Song K, Dubé MP, Lim J, Hwang I, Lee I, Kim JJ. Lamin A/C mutations associated with familial and sporadic cases of dilated cardiomyopathy in Koreans. Exp Mol Med. 2007 Feb 28;39(1):114-20.


139. 139- Judge D.P., ap Rhys C.M.J., Guerrerio P. , Geubtner J. , Zhang J. , Cheng A. , Dietz H.C. . Perturbation of alternative splicing in a novel cardiocutaneous progeria syndrome caused by mutation in lamin A/C. Abstract 18. The 53rd Annual Meeting of The American Society of Human Genetics, Los Angeles, California, USA, November 4 to 8, 2003.


140. 140- Maioli MA, Marrosu G, Mateddu A, Solla E, Carboni N, Tacconi P, Lai C, Marrosu MG. A novel mutation in the central rod domain of lamin A/C producing a phenotype resembling the Emery-Dreifuss muscular dystrophy phenotype. Muscle Nerve. 2007 Dec;36(6):828-32.


141. 141- Decaudain A, Vantyghem MC, Guerci B, Hécart AC, Auclair M, Reznik Y, Narbonne H, Ducluzeau PH, Donadille B, Lebbé C, Béréziat V, Capeau J, Lascols O, Vigouroux C. New metabolic phenotypes in laminopathies: LMNA mutations in patients with severe metabolic syndrome. J Clin Endocrinol Metab. 2007 Dec;92(12):4835-44. Epub 2007 Aug 21.


142. 142- Kosho T, Takahashi J, Momose T, Nakamura A, Sakurai A, Wada T, Yoshida K, Wakui K, Suzuki T, Kasuga K, Nishimura G, Kato H, Fukushima Y. Mandibuloacral dysplasia and a novel LMNA mutation in a woman with severe progressive skeletal changes. Am J Med Genet A. 2007 Nov 1;143A(21):2598-603.


143. 143- Golzio PG, Chiribiri A, Gaita F. 'Unexpected' sudden death avoided by implantable cardioverter defibrillator in Emery Dreifuss patient. Europace. 2007 Dec;9(12):1158-60. Epub 2007 Oct 29.


144. 144- Geiger SK, Bär H, Ehlermann P, Wälde S, Rutschow D, Zeller R, Ivandic BT, Zentgraf H, Katus HA, Herrmann H, Weichenhan D. Incomplete nonsense-mediated decay of mutant lamin A/C mRNA provokes dilated cardiomyopathy and ventricular tachycardia. J Mol Med. 2008 Mar; 86(3):281-9. Epub 2007 Nov7.


145. 145- Correa M, Gómez CG. A novel mutation in limb girdle muscular dystrophy. P R Health Sci J. 2007 Sep;26(3):229-32.


146. 146- Muschke P, Kölsch U, Jakubiczka S, Wieland I, Brune T, Wieacker P. The heterozygous LMNA mutation p.R471G causes a variable phenotype with features of two types of familial partial lipodystrophy. Am J Med Genet A. 2007 Dec 1;143A(23):2810-4.


147. 147- Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT. A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy. Clin Endocrinol (Oxf). 2008 Jul;69(1):61-8. Epub 2008 Jul 1.


148. 148- Hookana E, Junttila MJ, Särkioja T, Sormunen R, Niemelä M, Raatikainen MJ, Uusimaa P, Lizotte E, Peuhkurinen K, Brugada R, Huikuri HV. Cardiac arrest and left ventricular fibrosis in a Finnish family with the lamin A/C mutation. J Cardiovasc Electrophysiol. 2008 Jul;19(7):743-7. Epub 2007 Nov 21.


149. 149- Lo HP, Cooper ST, Evesson FJ, Seto JT, Chiotis M, Tay V, Compton AG, Cairns AG, Corbett A, MacArthur DG, Yang N, Reardon K, North KN. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis. Neuromuscul Disord. 2008 Jan;18(1):34-44. Epub 2007 Sep 25.


150. 150- Lombardi F, Gullotta F, Columbaro M, Filareto A, D'Adamo M, Vielle A, Guglielmi V, Nardone AM, Azzolini V, Grosso E, Lattanzi G, D'Apice MR, Masala S, Maraldi NM, Sbraccia P, Novelli G. Compound heterozygosity for mutations in LMNA in a patient with a myopathic and lipodystrophic mandibuloacral dysplasia type A phenotype. J Clin Endocrinol Metab. 2007 Nov;92(11):4467-71. Epub 2007 Sep 11.


151. 151- Fardeau M, Richard P and Bonne G. Unpublished data.


152. 152- Menard D,Richard P and Bonne G. Unpublished data.


153. 153- Furby A, Richard P and Bonne G. Unpublished data.


154. 154- Pages M, Richard P and Bonne G. Unpublished data.


155. 155- Urtizberea JA, Richard P and Bonne G. Unpublished data.


156. 156- Leheup B, Richard P and Bonne G. Unpublished data.


157. 157- Patel K, Roseman D, Burbank H, Attarian H. Obstructive sleep apnea in familial partial lipodystrophy type 2 with atypical skin findings and vascular disease. Sleep Breath. 2009 Nov;13(4):425-7. Epub 2009 May 6.


158. 158- Bertherat J, Richard P and Bonne G. Unpublished data.


159. 159- Vabres P, Richard P and Bonne G. Unpublished data.


160. 160- Ferrer X, Richard P and Bonne G. Unpublished data.


161. 161- Charron P, Richard P and Bonne G. Unpublished data.


162. 162- Ferreiro A, Richard P and Bonne G. Unpublished data.


163. 163- Baumann C, Richard P and Bonne G. Unpublished data.


164. 164- Kuntzer T, Dunand M, Richard P and Bonne G. Unpublished data.


165. 165- Goizet C, Richard P and Bonne G. Unpublished data.


166. 166- Bataille H, Richard P and Bonne G. Unpublished data.


167. 167- Cintas P, Richard P and Bonne G. Unpublished data.


168. 168- Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S. Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C. Am J Med Genet A. 2008 Jun 15;146A(12):1530-42.


169. 169- Gueffet JP, Richard P and Bonne G. Unpublished data.


170. 170- Bellesme C, Richard P and Bonne G. Unpublished data.


171. 171- Jeannet PY, Richard P and Bonne G. Unpublished data.


172. 172- Chapon F, Richard P and Bonne G. Unpublished data.


173. 173- Canki-Klain N, Richard P and Bonne G. Unpublished data.


174. 174- Merideth MA, Gordon LB, Clauss S, Sachdev V, Smith AC, Perry MB, Brewer CC, Zalewski C, Kim HJ, Solomon B, Brooks BP, Gerber LH, Turner ML, Domingo DL, Hart TC, Graf J, Reynolds JC, Gropman A, Yanovski JA, Gerhard-Herman M, Collins FS, Nabel EG, Cannon RO 3rd, Gahl WA, Introne WJ. Phenotype and course of Hutchinson-Gilford progeria syndrome. N Engl J Med. 2008 Feb 7;358(6):592-604.


175. 175- Mussini JM, Richard P and Bonne G. Unpublished data.


176. 176- Coubes C, Richard P and Bonne G. Unpublished data.


177. 177- Madej-Pilarczyk A, Kmiec T, Fidzianska A, Rekawek J, Niebrój-Dobosz I, Turska-Kmiec A, Nestorowicz K, Józwiak S, Hausmanowa-Petrusewicz I. Progeria caused by a rare LMNA mutation p.S143F associated with mild myopathy and atrial fibrillation. Eur J Paediatr Neurol. 2008 Sep;12(5):427-30. Epub 2008 Mar 12.


178. 178- Carboni N, Mura M, Marrosu G, Cocco E, Ahmad M, Solla E, Mateddu A, Maioli MA, Marini S, Nissardi V, Frau J, Mallarini G, Mercuro G, Marrosu MG. Muscle MRI findings in patients with an apparently exclusive cardiac phenotype due to a novel LMNA gene mutation. Neuromuscul Disord. 2008 Apr;18(4):291-8. Epub 2008 Mar 11.


179. 179- Zirn B, Kress W, Grimm T, Berthold LD, Neubauer B, Kuchelmeister K, Müller U, Hahn A. Association of homozygous LMNA mutation R471C with new phenotype: mandibuloacral dysplasia, progeria, and rigid spine muscular dystrophy. Am J Med Genet A. 2008 Apr 15;146A(8):1049-54.


180. 180- Parks SB, Kushner JD, Nauman D, Burgess D, Ludwigsen S, Peterson A, Li D, Jakobs P, Litt M, Porter CB, Rahko PS, Hershberger RE. Lamin A/C mutation analysis in a cohort of 324 unrelated patients with idiopathic or familial dilated cardiomyopathy. Am Heart J. 2008 Jul;156(1):161-9. Epub 2008 Mar 12.


181. 181- Quijano-Roy S, Richard P and Bonne G. Unpublished data.


182. 182- De Backer J, Van Beeumen K, Loeys B, Duytschaever M. Expanding the phenotype of sudden cardiac death-An unusual presentation of a family with a Lamin A/C mutation. Int J Cardiol. 2008 Aug 6.


183. 183- Agarwal AK, Kazachkova I, Ten S, Garg A. Severe mandibuloacral dysplasia-associated lipodystrophy and progeria in a young girl with a novel homozygous Arg527Cys LMNA mutation. J Clin Endocrinol Metab. 2008 Dec;93(12):4617-23. Epub 2008 Sep 16.


184. 184- J. Schönberger, L. Kühler, L. Nessmann, A. Bayas, C. Angermann, G. Ertl, U. Walter, M. Zimmer. A novel truncating mutation in LMNA leads to nonsense-mediated decay and causes early atrial fibrillation with subsequent AV block and dilated cardiomyopathy through haploinsufficiency. Abstract P2272, Annual Congress of the European Society of Cardiology, Munich, Germany 2004.


185. 185- Kim HY, Ki CS, Kang SJ, Khang SK, Koh SH, Kim DW, Kim SH, Sung IH. A novel LMNA gene mutation Leu162Pro and the associated clinical characteristics in a family with autosomal-dominant emery-dreifuss muscular dystrophy. Muscle Nerve. 2008 Oct;38(4):1336-9.


186. 186- Chrestian N, Valdmanis PN, Echahidi N, Brunet D, Bouchard JP, Gould P, Rouleau GA, Champagne J, Dupré N. A novel mutation in a large French-Canadian family with LGMD1B. Can J Neurol Sci. 2008 Jul;35(3):331-4.


187. 187- Perrot A, Hussein S, Ruppert V, Schmidt HH, Wehnert MS, Duong NT, Posch MG, Panek A, Dietz R, Kindermann I, Böhm M, Michalewska-Wludarczyk A, Richter A, Maisch B, Pankuweit S, Ozcelik C. Identification of mutational hot spots in LMNA encoding lamin A/C in patients with familial dilated cardiomyopathy. Basic Res Cardiol. 2009 Jan;104(1):90-9. Epub 2008 Sep 15.


188. 188- Imachi H, Murao K, Ohtsuka S, Fujiwara M, Muraoka T, Hosokawa H, Ishida T. A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease. Endocrine. 2009 Feb;35(1):18-21. Epub 2008 Nov 15.


189. 189- Niebroj-Dobosz I, Marchel M, Madej A, Sokolowska B, Hausmanowa-Petrusewicz I. Circulating autoantibodies to troponin I in Emery-Dreifuss muscular dystrophy. Acta Myol. 2008 Jul;27:1-6.


190. 190- Astejada MN, Goto K, Nagano A, Ura S, Noguchi S, Nonaka I, Nishino I, Hayashi YK. Emerinopathy and laminopathy clinical, pathological and molecular features of muscular dystrophy with nuclear envelopathy in Japan. Acta Myol. 2007 Dec;26(3):159-64.


191. 191- Gambineri A, Semple RK, Forlani G, Genghini S, Grassi I, Hyden CS, Pagotto U, O'Rahilly S, Pasquali R. Monogenic polycystic ovary syndrome due to a mutation in the lamin A/C gene is sensitive to thiazolidinediones but not to metformin. Eur J Endocrinol. 2008 Sep;159(3):347-53.


192. 192- Madej-Pilarczyk A, Rosinska-Borkowska D, Rekawek J, Marchel M, Szalus E, Jablonska S, Hausmanowa-Petrusewicz I. Progeroid syndrome with scleroderma-like skin changes associated with homozygous R435C LMNA mutation. Am J Med Genet A. 2009 Nov;149A(11):2387-92.


193. 193- Makri S, Clarke NF, Richard P, Maugenre S, Demay L, Bonne G, Guicheney P. Germinal mosaicism for LMNA mimics autosomal recessive congenital muscular dystrophy. Neuromuscul Disord. 2009 Jan;19(1):26-8. Epub 2008 Dec 11.


194. 194- Renard D, Fourcade G, Milhaud D, Bessis D, Esteves-Vieira V, Boyer A, Roll P, Bourgeois P, Levy N, De Sandre-Giovannoli A. Novel LMNA mutation in atypical Werner syndrome presenting with ischemic disease. Stroke. 2009 Feb;40(2):e11-4. Epub 2008 Dec 18.


195. 195- Cortese R, Eckhardt F, Volleth M, Wehnert M, Koelsch U, Wieacker P, Brune T. The retinol acid receptor B gene is hypermethylated in patients with familial partial lipodystrophy. J Mol Endocrinol. 2007 Jun;38(6):663-71.


196. 196- Saj M, Jankowska A, Lewandowski M, Szwed H, Szperl M, Ploski R, Bilinska ZT. Dilated cardiomyopathy with profound segmental wall motion abnormalities and ventricular arrhythmia caused by the R541C mutation in the LMNA gene. Int J Cardiol. 2009 Jan 21.


197. 197- Mory PB, Crispim F, Kasamatsu T, Gabbay MA, Dib SA, Moisés RS. Atypical generalized lipoatrophy and severe insulin resistance due to a heterozygous LMNA p.T10I mutation. Arq Bras Endocrinol Metabol. 2008 Nov;52(8):1252-6.


198. 198- Verstraeten VL, Caputo S, van Steensel MA, Duband-Goulet I, Zinn-Justin S, Kamps M, Kuijpers HJ, Ostlund C, Worman HJ, Briedé JJ, Le Dour C, Marcelis CL, van Geel M, Steijlen PM, van den Wijngaard A, Ramaekers FC, Broers JL. The R439C mutation in LMNA causes lamin oligomerisation and susceptibility to oxidative stress. J Cell Mol Med. 2009 Feb 9.


199. 199- Laudes M, Oberhauser F, Walgenbach K, Schubert M, Schulte DM, Faust M, Krone W. Comparison of phenotypes in male and female individuals of a new family with Dunnigan type of familial partial lipodystrophy due to a lamin A/C R482W mutation. Horm Metab Res. 2009 May;41(5):414-7. Epub 2009 Feb 9.


200. 200- Millat G, Chanavat V, Julia S, Crehalet H, Bouvagnet P, Rousson R. Validation of high-resolution DNA melting analysis for mutation scanning of the LMNA gene. Clin Biochem. 2009 Jun;42(9):892-8. Epub 2009 Feb 6.


201. 201- Collet-Gaudillat C, Billon-Bancel A, Beressi JP. Long-term improvement of metabolic control with pioglitazone in a woman with diabetes mellitus related to Dunnigan syndrome: a case report. Diabetes Metab. 2009 Apr;35(2):151-4. Epub 2009 Feb 26.


202. 202- Tsao CY, Mendell JR. Partial epilepsy in an adolescent male with limb-girdle muscular dystrophy 1B. J Child Neurol. 2009 Mar;24(3):346-8.


203. 203- Park YE, Hayashi YK, Goto K, Komaki H, Hayashi Y, Inuzuka T, Noguchi S, Nonaka I, Nishino I. Nuclear changes in skeletal muscle extend to satellite cells in autosomal dominant Emery-Dreifuss muscular dystrophy/limb-girdle muscular dystrophy 1B. Neuromuscul Disord. 2009 Jan;19(1):29-36. Epub 2008 Dec 12.


204. 204- Doh YJ, Kim HK, Jung ED, Choi SH, Kim JG, Kim BW, Lee IK. Novel LMNA Gene Mutation in a Patient With Atypical Werner's Syndrome. Korean J Intern Med. 2009 Mar;24(1):68-72.


205. 205- Duparc A, Cintas P, Somody E, Bieth E, Richard P, Maury P, Delay M. A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathy. Pacing Clin Electrophysiol. 2009 Mar;32(3):410-5.


206. 206- McPherson E, Turner L, Zador I, Reynolds K, Macgregor D, Giampietro PF. Ovarian failure and dilated cardiomyopathy due to a novel lamin mutation. Am J Med Genet A. 2009 Feb 15;149A(4):567-72.


207. 207- Pan H, Richards AA, Zhu X, Joglar JA, Yin HL, Garg V. A novel mutation in LAMIN A/C is associated with isolated early-onset atrial fibrillation and progressive atrioventricular block followed by cardiomyopathy and sudden cardiac death. Heart Rhythm. 2009 May;6(5):707-10. Epub 2009 Feb 4.


208. 208- Liang L, Zhang H, Gu X. Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance. Acta Paediatr. 2009 May 6.


209. 209- Arbustini E, Pilotto A, Grasso M, Marziliano N, Serio A, Gambarin F, Pasotti M, Serafini E, Cassini P, Digiorgio B. Novel human pathological mutations. Gene symbol: LMNA. Disease: cardiomyopathy, dilated with conduction defects. Hum Genet. 2009 Apr;125(3):350.


210. 210- Lassuthová P, Baránková L, Kraus J, Maríková T, Seeman P. Emery-Dreifuss muscular dystrophy: a novel mutation in the LMNA gene. Pediatr Neurol. 2009 Aug;41(2):127-30.


211. 211- Kandert S, Wehnert M, Müller CR, Buendia B, Dabauvalle MC. Impaired nuclear functions lead to increased senescence and inefficient differentiation in human myoblasts with a dominant p.R545C mutation in the LMNA gene. Eur J Cell Biol. 2009 Jul 7.


212. 212- Van den Bergh P, Richard P and Bonne G. Unpublished data.


213. 213- Keller J, Subramanyam L, Simha V, Gustofson R, Minjarez D, Garg A. Lipodystrophy: an unusual diagnosis in a case of oligomenorrhea and hirsutism. Obstet Gynecol. 2009 Aug;114(2 Pt 2):427-31.


214. 214- Emerson LJ, Holt MR, Wheeler MA, Wehnert M, Parsons M, Ellis JA. Defects in cell spreading and ERK1/2 activation in fibroblasts with lamin A/C mutations. Biochim Biophys Acta. 2009 Aug;1792(8):810-21. Epub 2009 Jun 12.


215. 215- Garavelli L, D'Apice MR, Rivieri F, Bertoli M, Wischmeijer A, Gelmini C, De Nigris V, Albertini E, Rosato S, Virdis R, Bacchini E, Dal Zotto R, Banchini G, Iughetti L, Bernasconi S, Superti-Furga A, Novelli G. Mandibuloacral dysplasia type A in childhood. Am J Med Genet A. 2009 Oct;149A(10):2258-64.


216. 216- Saga A, Karibe A, Otomo J, Iwabuchi K, Takahashi T, Kanno H, Kikuchi J, Keitoku M, Shinozaki T, Shimokawa H. Lamin A/C gene mutations in familial cardiomyopathy with advanced atrioventricular block and arrhythmia. Tohoku J Exp Med. 2009 Aug;218(4):309-16.


217. 217- Carboni N, Porcu M, Mura M, Cocco E, Marrosu G, Maioli MA, Solla E, Tranquilli S, Orrù P, Marrosu MG. Evolution of the phenotype in a family with an LMNA gene mutation presenting with isolated cardiac involvement. Muscle Nerve. 2009 Sep 18.


218. 218- Carboni N, Mura M, Marrosu G, Cocco E, Marini S, Solla E, Mateddu A, Maioli MA, Piras R, Mallarini G, Mercuro G, Porcu M, Marrosu MG. Muscle imaging analogies in a cohort of patients with different clinical phenotypes caused by LMNA gene mutations. Muscle Nerve. 2010 Apr;41(4):458-63.


219. 219- Garg A, Subramanyam L, Agarwal AK, Simha V, Levine B, D'Apice MR, Novelli G, Crow Y. Atypical Progeroid Syndrome due to Heterozygous Missense LMNA Mutations. J Clin Endocrinol Metab. 2009 Oct 29.


220. 220- Møller DV, Pham TT, Gustafsson F, Hedley P, Ersbøll MK, Bundgaard H, Andersen CB, Torp-Pedersen C, Køber L, Christiansen M. The role of Lamin A/C mutations in Danish patients with idiopathic dilated cardiomyopathy. Eur J Heart Fail. 2009 Nov;11(11):1031-5.


221. 221- Park KS, Cho JY, Kwon OH, Park SH, Lee KW, Ki CS. A novel gene mutation in a patient with autosomal dominant Emery-Dreifuss muscular dystrophy. 19th World Congress of Neurology, Poster Abstracts, Journal of the Neurological Sciences 285 S1 (2009) S155-S339.


222. 222- Puyade M, Roblot P, El Amar H, Lucke V, Echahidi N. Les laminopathies : souvent vues, rarement reconnues. Abstract CO133, 60ème Congrès de la Société nationale française de médecine interne et 4ème Congrès Franco-Maghrébin. La revue de médecine interne, Volume 30, numéro S4, page 374 (décembre 2009).


223. 223- Ranganath P & Phadke SR. Two siblings with mandibuloacral dysplasia and type A lipodystrophy with LMNA gene mutation: a case report. Abstract, 5th International Congress on Birth Defects and Disabilities in the Developping World, New Delhi 4 octobre 2009.


224. 224- Klupa T, Szopa M, Skupien J, Wojtyczek K, Cyganek K, Kowalska I, Malecki MT. LMNA gene mutation search in Polish patients: new features of the heterozygous Arg482Gln mutation phenotype. Endocrine. 2009 Oct 27.


225. 225- Subramanyam L, Simha V, Garg A. Overlapping syndrome with familial partial lipodystrophy, Dunnigan variety and cardiomyopathy due to amino-terminal heterozygous missense lamin A/C mutations. Clin Genet. 2009 Dec 22.


226. 226- Yuan WL, Huang CY, Wang JF, Xie SL, Nie RQ, Liu YM, Liu PM, Zhou SX, Chen SQ, Huang WJ. R25G mutation in exon 1 of LMNA gene is associated with dilated cardiomyopathy and limb-girdle muscular dystrophy 1B. Chin Med J (Engl). 2009 Dec 5;122(23):2840-5.


227. 227- W. Karrouz1, C. Lemaire2, C. Douillard2, D. Launay3, M.C. Vantyghem2, D. Lacroix4 and D. Launay4 . P251 Laminopathie atypique révélée par un diabète non insulinodépendant et des troubles de conduction. Diabetes & Metabolism. Volume 35, Supplement 1, March 2009, Page A86


228. 228- Gupta P, Bilinska ZT, Sylvius N, Boudreau E, Veinot JP, Labib S, Bolongo PM, Hamza A, Jackson T, Ploski R, Walski M, Grzybowski J, Walczak E, Religa G, Fidzianska A, Tesson F. Genetic and ultrastructural studies in dilated cardiomyopathy patients: a large deletion in the lamin A/C gene is associated with cardiomyocyte nuclear envelope disruption. Basic Res Cardiol. 2010 May;105(3):365-77. Epub 2010 Feb 3.


229. 229- Botto N, Vittorini S, Colombo MG, Biagini A, Paradossi U, Aquaro G, Andreassi MG. A novel LMNA mutation (R189W) in familial dilated cardiomyopathy: evidence for a 'hot spot' region at exon 3: a case report. Cardiovasc Ultrasound. 2010 Mar 22;8:9.


230. 230- Wu X, Wang QK, Gui L, Liu M, Zhang X, Jin R, Li W, Yan L, Du R, Wang Q, Zhu J, Yang J. Identification of a new lamin A/C mutation in a chinese family affected with atrioventricular block as the prominent phenotype. J Huazhong Univ Sci Technolog Med Sci. 2010 Feb;30(1):103-7. Epub 2010 Feb 14.


231. 231- Solé G, Martin-Négrier ML, Vital A, Richard P, Sternberg D, Rouanet M, Ferrer X. Canalopathie musculaire associée à une dystrophie des ceintures de type 1B (Laminopathie A). Abstract Q14, Journées de Neurologie de langue française Lyon jeudi 29 avril 2010.


232. 232- Yuan J, Hu J, Zhao Z, Shen H, Li N, Bing Q. Mutation analysis of a Chinese family with autosomal dominant Emery-Dreifuss muscular dystrophy. Chinese journal of medical genetics. 2010 Apr;27(2):136-9.


233. 233- Matsubara S, Kitaguchi T. Pathological changes of the myonuclear fibrous lamina and internal nuclear membrane in two cases of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction disturbance (LGMD1B). Acta Neuropathol. 2004 Feb;107(2):111-8. Epub 2003 Dec 11.


234. 234- Drouin-Garraud V, Senant J, Maréchal L, Richard P, Ben Yaou R, Frebourg T, Bonne G. An heterozygous mutation of the lamin A/C gene leading to a complex phenotype : acro-osteolysis, atrial fibrillation, hypertriglyceridaemia and autoimmune thyroiditis. Congress abstract 640, 2004 American Society of Human Genetics Annual Meeting.


235. 235- Fidzianska A, Hausmanowa-Petrusewicz I. Architectural abnormalities in muscle nuclei. Ultrastructural differences between X-linked and autosomal dominant forms of EDMD. J Neurol Sci. 2003 Jun 15;210(1-2):47-51.


236. 236- Brauch KM, Chen LY, Olson TM. Comprehensive mutation scanning of LMNA in 268 patients with lone atrial fibrillation. Am J Cardiol. 2009 May 15;103(10):1426-8. Epub 2009 Apr 1.


237. 237- F. Lombardi, M.R. D'Apice, S. Latini, M. D'Adamo, P. Sbraccia, S. Servidei, G. Novelli. Novel LMNA mutation seen in a patient with leanness, severe insulin resistance and facial dismorphisms. abstracts congres european society of hum genet. 2008


238. 238- Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokolowska B, Hausmanowa-Petrusewicz I. Matrix metalloproteinases in serum of Emery-Dreifuss muscular dystrophy patients. Acta Biochim Pol. 2009;56(4):717-22. Epub 2009 Dec 8.


239. 239- Ambrosi P, Mouly-Bandini A, Attarian S, Habib G. Heart transplantation in 7 patients from a single family with limb-girdle muscular dystrophy caused by lamin A/C mutation. Int J Cardiol. 2009 Nov 12;137(3):e75-6. Epub 2009 May 15.


240. 240- Beckmann BM, Holinski-Feder E, Walter MC, Haserück N, Reithmann C, Hinterseer M, Wilde AA, Kääb S. Laminopathy presenting as familial atrial fibrillation. Int J Cardiol. 2010 Nov 19;145(2):394-6. Epub 2010 May 15.


241. 241- S. Benedetti, I. Menditto, C. Rodolico, P. Carrera, D. Toniolo, M. Ferrari. Distribution and characterization of lamin A/C mutations: a role for silent variations? Abstract, 2004 American Society of Human Genetics Annual Meeting.


242. 242- Volpi L, Ricci G, Passino C, Di Pierri E, Alì G, Maccherini M, Benedetti S, Lattanzi G, Columbaro M, Ferrari M, Caramella D, Tanganelli P, Emdin M, Siciliano G. Prevalent cardiac phenotype resulting in heart transplantation in a novel LMNA gene duplication. Neuromuscul Disord. 2010 Jun 24.


243. 243- Chang SH, Tsai CT, Lai LP, Lei MH. Identification of a lamin A/C gene mutation in a Taiwanese family with limb girdle muscular dystrophy and cardiomyopathy. Int J Cardiol. 2010 Jul 6.


244. 244- Drac H, Madej-Pilarczyk A, Gospodarczyk-Szot K, Gawel M, Kwiecinski H, Hausmanowa-Petrusewicz I. Familial partial lipodystrophy associated with the heterozygous LMNA mutation 1445G>A (Arg482Gln) in a Polish family. Neurol Neurochir Pol. 2010 May-June;44(3):291-296.


245. 245- Deconinck N, Dion E, Yaou RB, Ferreiro A, Eymard B, Briñas L, Payan C, Voit T, Guicheney P, Richard P, Allamand V, Bonne G, Stojkovic T. Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern. Neuromuscul Disord. 2010 Jun 22.


246. 246- Youn GJ, Uzunyan M, Vachon L, Johnson J, Winder TL, Yano S. Autosomal recessive LMNA mutation causing Restrictive Dermopathy. Clin Genet. 2010 Aug;78(2):199-200.


247. 247- Chemla JC, Kanter RJ, Carboni MP, Smith EC. Two children with "dropped head" syndrome due to lamin A/C mutations. Muscle Nerve. 2010 Sep 30.


248. 248- Shafeghati Y, Levy N, Martin GM. LMNA mutations and progeroid syndromes. Abstract, MYOLOGIE / MYOLOGY 2005, International congress of myology : Nantes - 9 to 13 may 2005.


249. 249- Conceição I, Evangelista T, Pereira P, Vieira E, Oliveira J, Santos R. Report of a family with two different hereditary diseases leading to early cardiac involvement. Abstarct, XII International Congress on Neuromuscular Diseases, Naples, Italy 17th -22nd July 2010


250. 250- Madej-Pilarczyk A, Niezgoda A, Janus M, Wojnicz R, Marchel M, Fidzia?ska A, Grajek S, Hausmanowa-Petrusewicz I. Limb-girdle muscular dystrophy with severe heart failure overlapping with lipodystrophy in a patient with LMNA mutation p.Ser334del. J Appl Genet. 2017 Feb;58(1):87-91.


251. 251- Skeletal muscle pathology in autosomal dominant Emery-Dreifuss muscular dystrophy with lamin A/C mutations. Sewry CA, Brown SC, Mercuri E, Bonne G, Feng L, Camici G, Morris GE, Muntoni F. Neuropathol Appl Neurobiol. 2001 Aug;27(4):281-90.


252. 252- Milone M, Emslie-Smith A, Knapik, A.G. Engel. Novel start codon mutation in the lamin A/C gene: clinical and pathological findings. Abstarct SM26, XII International Congress on Neuromuscular Diseases, Naples, Italy 17th -22nd July 2010


253. 253- Menezes M, Barlow E, Pedersen R, Johnston H. Screening for LMNA mutations in children with genetically unclassified lower motor unit disorders. Abstract SM29, XII International Congress on Neuromuscular Diseases, Naples, Italy 17th -22nd July 2010


254. 254- Gonzalez-Quereda L, Olive M, Bautista J, Paradas C, Juan J, Rodríguez MJ, Verdura E, Companys E, Baiget M, Gallano P. Clinical heterogeneity in a large family with a mutation in the LMNA gene. Abstract SM30, XII International Congress on Neuromuscular Diseases, Naples, Italy 17th -22nd July 2010


255. 255- Politano L. The congenital spectrum of laminopathies. Abstract, XII International Congress on Neuromuscular Diseases, Naples, Italy 17th -22nd July 2010


256. 256- Prigogine C, Richard P, Van den Bergh P, Groswasser J, Deconinck N. Novel LMNA mutation presenting as severe congenital muscular dystrophy. Pediatr Neurol. 2010 Oct;43(4):283-6.


257. 257- Perrot A, Neubert M, Dietz R, Posch MG, Oezcelik C. A novel lamin A/C mutation in hypertrophic cardiomyopathy illustrates the diversity of cardiomyopathy phenotypes in the laminopathies. Abstract, Frontiers in Cardiovascular Biology Berlin, 16-19 July 2010, First Congress of the ESC Council on Basic Cardiovascular Science.


258. 258- Lupsa BC, Sachdev V, Lungu AO, Rosing DR, Gorden P. Cardiomyopathy in congenital and acquired generalized lipodystrophy: a clinical assessment. Medicine (Baltimore). 2010 Jul;89(4):245-50.


259. 259- Olive M, Harten I, Mitchell R, Beers J, Djabali K, Cao K, Erdos MR, Blair C, Funke B, Smoot L, Gerhard-Herman M, Machan JT, Kutys R, Virmani R, Collins FS, Wight TN, Nabel EG, Gordon LB. Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging. Arterioscler Thromb Vasc Biol. 2010 Aug 26.


260. 260- Scharner J, Brown CA, Bower M, Iannaccone ST, Khatri IA, Escolar D, Gordon E, Felice K, Crowe CA, Grosmann C, Meriggioli MN, Asamoah A, Gordon O, Gnocchi VF, Ellis JA, Mendell JR, Zammit PS. Novel LMNA mutations in patients with Emery-Dreifuss muscular dystrophy and functional characterization of four LMNA mutations. Hum Mutat. 2010 Sep 16.


261. 261- Gallano P et al. Unpublished data.


262. 262- Doubaj Y, Lamzouri A, Elalaoui SC, Laarabi FZ, Sefiani A. Three cases of Hutchinson-Gilford progeria syndrome. Arch Pediatr. 2011 Feb;18(2):156-9. Epub 2011 Jan 19.


263. 263- D. V. Moller, E. R. Behr, P. Hedley, P. Syrris, P. M. Elliott, W. J. McKenna and M. Christiansen. Mutations in the Lamin A/C Gene Play a Major Role in Sudden Arrhythmic Death Syndrome. AHA Scientific Sessions 2010, Abstract, Circulation, 23 November 2010; 122: A16108.


264. 264- Darbro WB, Cox EM, Stence AA, Cabuay BM, Mathews KD, Nagy PL, Moore SA. In Silico and Experimental Analysis of a Novel Intronic LMNA DNA Variation Implicated in Limb Girdle Muscular Dystrophy Type 1B and Dilated Cardiomyopathy. The American Society of Human Genetics 2010 Annual Meeting, abstract # number 847.


265. 265- G. Rodriguez; G. Czernuszewicz; Y. Tan; N. Kleiman; G. Torre-Amione; J. T. Willerson; S. Sims; A. J. Marian. Phenotypic Plasticity of LMNA Mutations in Cardiovascular System Includes Isolated Cardiac Progeria, Dilated and Hypertrophic Cardiomyopathies, Atrial Fibrillation, Conduction Defects and Degenerative Valvular Diseases. Abstract, AHA Scientific Sessions 2008, Circulation. 2008;118:S_883-S_884.


266. 266- Dominici S, Fiori V, Magnani M, Schena E, Capanni C, Camozzi D, D'Apice MR, Le Dour C, Auclair M, Caron M, Novelli G, Vigouroux C, Maraldi NM, Lattanzi G. Different prelamin A forms accumulate in human fibroblasts: a study in experimental models and progeria. Eur J Histochem. 2009 Jan-Mar;53(1):43-52.


267. 267- Malek LA, Labib S, Mazurkiewicz L, Saj M, Ploski R, Tesson F, Bilinska ZT. A new c.1621 C > G, p.R541G lamin A/C mutation in a family with DCM and regional wall motion abnormalities (akinesis/dyskinesis): genotype-phenotype correlation. J Hum Genet. 2011 Jan;56(1):83-6. Epub 2010 Nov 18.


268. 268- Saha B, Lessel D, Hisama FM, Leistritz DF, Friedrich K, Martin GM, Kubisch C, Oshima J. A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features. Mol Syndromol. 2010 Sep;1(3):127-132. Epub 2010 Sep 14.


269. 269- Mewborn SK, Puckelwartz MJ, Abuisneineh F, Fahrenbach JP, Zhang Y, MacLeod H, Dellefave L, Pytel P, Selig S, Labno CM, Reddy K, Singh H, McNally E. Altered chromosomal positioning, compaction, and gene expression with a lamin A/C gene mutation. PLoS One. 2010 Dec 14;5(12):e14342.


270. 270- Paradas C, Rivas E, Jesús S, Morales J, González-Quereda L, Gallano P, Olivé O, Márquez C.Unusual morphological changes due to different mutations in lamin A/C gene: observations in four patients. Abstract P1.48, 15th International Congress of The World Muscle Society, 2010, Kumamoto, Japan.


271. 271- Mitsuhashi H, Hayashi YK, Matsuda C, Noguchi S, Wakatsuki S, Araki T, Nishino I. Specific phosphorylation of Ser458 of A-type lamins in LMNA-associated myopathy patients. J Cell Sci. 2010 Nov 15;123(Pt 22):3893-900. Epub 2010 Oct 27.


272. 272- Cardona-Hernández R, Suárez-Ortega L, Torres M. [Difficult to manage diabetes mellitus associated with generalized congenital lipodystrophy. Report of two cases]. An Pediatr (Barc). 2011 Feb;74(2):126-30. Epub 2010 Dec 17.


273. 273- Ehlermann P, Lehrke S, Papavassiliu T, Meder B, Borggrefe M, Katus HA, Schimpf R. Sudden cardiac death in a patient with lamin A/C mutation in the absence of dilated cardiomyopathy or conduction disease. Clin Res Cardiol. 2011 Feb 16.


274. 274- Le Dour C, Schneebeli S, Bakiri F, Darcel F, Jacquemont ML, Maubert MA, Auclair M, Jeziorowska D, Reznik Y, Béréziat V, Capeau J, Lascols O, Vigouroux C. A Homozygous Mutation of Prelamin-A Preventing Its Farnesylation and Maturation Leads to a Severe Lipodystrophic Phenotype: New Insights into the Pathogenicity of Nonfarnesylated Prelamin-A. J Clin Endocrinol Metab. 2011 Feb 23.


275. 275- Carboni N, Floris M, Mateddu A, Porcu M, Marrosu G, Solla E, Cocco E, Mura M, Marini S, Maioli MA, Piras R, Aste R, Marrosu MG. Aberrant splicing in the LMNA gene caused by a novel mutation on the polypyrimidine tract of intron 5. Muscle Nerve. 2011 May;43(5):688-93


276. 276- Marsman RF, Bardai A, Postma AV, Res JC, Koopmann TT, Beekman L, van der Wal AC, Pinto YM, Lekanne Deprez RH, Wilde AA, Jordaens LJ, Bezzina CR. A Complex Double Deletion in LMNA Underlies Progressive Cardiac Conduction Disease, Atrial Arrhythmias and Sudden Death. Circ Cardiovasc Genet. 2011 Mar 15.


277. 277- Cy Ho J, Zhou T, Lai WH, Huang Y, Chan YC, Li X, Ly Wong N, Li Y, Au KW, Guo D, Xu J, Siu CW, Pei D, Tse HF, Esteban MA. Generation of induced pluripotent stem cell lines from 3 distinct laminopathies bearing heterogeneous mutations in lamin A/C. Aging (Albany NY). 2011 Mar 28.


278. 278- Visser ME, Kropman E, Kranendonk ME, Koppen A, Hamers N, Stroes ES, Kalkhoven E, Monajemi H. Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPAR? mutation (Y151C). Diabetologia. 2011 Apr 9.


279. 279- Todorova A, Dabauvalle MC, Kress W, Müller CR. Novel mutations in lamin a/c gene and autosomal dominant Emery-Dreifuss muscular dystrophy. Abstract P2_20 31, German Society of Human Genetics (GfH), Leipzig, 2002.


280. 280- Niebroj-Dobosz I, Madej-Pilarczyk A, Marchel M, Sokolowska B, Hausmanowa-Petrusewicz I. Circulating tenascin-C levels in patients with dilated cardiomyopathy in the course of Emery-Dreifuss muscular dystrophy. Clin Chim Acta. 2011 May 5.


281. 281- Komaki H, Hayashi YK, Tsuburaya R, Sugie K, Kato M, Nagai T, Imataka G, Suzuki S, Saitoh S, Asahina N, Honke K, Higuchi Y, Sakuma H, Saito Y, Nakagawa E, Sugai K, Sasaki M, Nonaka I, Nishino I. Inflammatory changes in infantile-onset LMNA-associated myopathy. Neuromuscul Disord. 2011 May 30.


282. 282- P. Ehlermann, K. Georgiev, B. Ivandic, R. Zeller, R. Pribe, C. Zugck, A. Remppis, E. Gruenig, D. Weichenhan, H.A. Katus. Lamin A/C mutations in patients with dilated cardiomyopathy and conduction disease, ventricular dysrhythmia or family history of sudden death. Abstract, European Society of Cardiology Congress 2009, 29 August-2 September Barcelona, Spain.


283. 283- N. Botto, M. Fontana, S. Vittorini, M.G. Colombo, S. Manfredi, M.G. Andreassi. Expanding the cardiac phenotypes of laminopathies: novel LMNA mutations in two patients with left ventricular noncompaction before ventricular systolic dysfunction. Abstract, European Society of Cardiology Congress 2011, 27-31 August, Paris, France.


284. 284- Siu CW, Lee YK, Ho JC, Lai WH, Chan YC, Ng KM, Wong LY, Au KW, Lau YM, Zhang J, Lay KW, Colman A, Tse HF. Modeling of lamin A/C mutation premature cardiac aging using patient-specific induced pluripotent stem cells. Aging (Albany NY). 2012 Nov;4(11):803-822.


285. 285- Leão LM, Alencar RC, Rodrigues Gda C, Bouzas I, Gallo P, Rossini A. [Dunnigan-type familial partial lipodystrophy: attention to precocious diagnosis]. Rev Bras Ginecol Obstet. 2011 Feb;33(2):99-103.


286. 286- Gonzalez-Quereda L, Delgadillo V, Juan-Mateu J, Verdura E, Rodriguez MJ, Baiget M, Pineda M, Gallano P. LMNA mutation in progeroid syndrome in association with strokes. Eur J Med Genet. 2011 Nov-Dec;54(6):e576-9. Epub 2011 Jul 18.


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326. 326- Zhang L, Shen H, Zhao Z, Bing Q, Hu J. Cardiac effects of the c.1583 C>G LMNA mutation in two families with Emery Dreifuss muscular dystrophy. Mol Med Rep. 2015 oct; 12(4):5065-71


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332. 332- Steckiewicz R, Stolarz P, ?wi?to? E, Madej-Pilarczyk A, Grabowski M, Marchel M, Pieniak M, Filipiak KJ, Hausmanowa-Petrusewicz I, Opolski G. Cardiac pacing in 21 patients with Emery-Dreifuss muscular dystrophy: a single-center study with a 39-year follow-up. Kardiol Pol. 2015 Nov 17.


333. 333- Yassaee VR, Khojaste A, Hashemi-Gorji F, Ravesh Z, Toosi P. A novel homozygous LMNA mutation (p.Met540Ile) causes mandibuloacral dysplasia type a. Gene. 2016 Feb 10;577(1):8-13.


334. 334- Gómez-Andrés D, Dabaj I, Mompoint D, Hankiewicz K, Azzi V, Ioos C, Romero NB, Ben Yaou R, Bergounioux J, Bonne G, Richard P, Estournet B, Yves-Carlier R, Quijano-Roy S. Pediatric laminopathies: Whole-body MRI fingerprint and comparison with SEPN1-myopathy. Muscle Nerve. 2015 Dec 16.


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336. 336- Nishi T, Takaoka H, Funabashi N, Nishimura M, Ohara O, Makiyama T, Ueda M, Kajiyama T, Kobayashi Y. Familial lamin A/C mutation cardiomyopathy with arrhythmia substrate detected by cardiac magnetic resonance imaging and electroanatomical mapping. Int J Cardiol. 2016 Feb 4;209:248-252.


337. 337- Ambrosi P, Kreitmann B, Lepidi H, Habib G, Levy N, Philip N, De Sandre-Giovannoli A. A novel overlapping phenotype characterized by lipodystrophy, mandibular dysplasia, and dilated cardiomyopathy associated with a new mutation in the LMNA gene. Int J Cardiol. 2016 Apr 15;209:317-8.


338. 338- Liu Z, Shan H, Huang J, Li N, Hou C, Pu J. A novel lamin A/C gene missense mutation (445 V > E) in immunoglobulin-like fold associated with left ventricular non-compaction. Europace. 2016 Apr;18(4):617-22.


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351. 351- Guo X, Ling C, Liu Y, Zhang X, Zhang S. A Case of Novel Lamin A/C Mutation Manifesting as Atypical Progeroid Syndrome and Cardiomyopathy. Can J Cardiol. 2015 Nov 19.


352. 352- Petillo R, D'Ambrosio P, Torella A, Taglia A, Picillo E, Testori A, Ergoli M, Nigro G, Piluso G, Nigro V, Politano L. Novel mutations in LMNA A/C gene and associated phenotypes. Acta Myol. 2015 Dec;34(2-3):116-9.


353. 353- Furuta M, Sumi-Akamaru H, Takahashi MP, Hayashi YK, Nishino I, Mochizuki H. An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles. Neuromuscul Disord. 2016 Sep;26(9) :593-7.


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357. 357- Al-Saaidi R, Rasmussen TB, Palmfeldt J, Nissen PH, Beqqali A, Hansen J, Pinto YM, Boesen T, Mogensen J, Bross P. The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins. Exp Cell Res. 2013 Aug 31.


358. 358- Carmosino M, Gerbino A, Schena G, Procino G, Miglionico R, Forleo C, Favale S, Svelto M. The expression of Lamin A mutant R321X leads to endoplasmic reticulum stress with aberrant Ca2+ handling. J Cell Mol Med. 2016 Jul 15.


359. 359- Zhao J, Yao H, Li Z, Wang L, Liu G, Wang DW, Wang DW, Liang Z. A novel nonsense mutation in LMNA gene identified by Exome Sequencing in an atrial fibrillation family. Eur J Med Genet. 2016 Aug;59(8):396-400.


360. 360- Liang JJ, Grogan M, Ackerman MJ. LMNA-Mediated Arrhythmogenic Right Ventricular Cardiomyopathy and Charcot-Marie-Tooth Type 2B1: A Patient-Discovered Unifying Diagnosis. J Cardiovasc Electrophysiol. 2016 Jul;27(7):868-71.


361. 361- Ozer L, Unsal E, Aktuna S, Baltaci V, Celikkol P, Akyigit F, Sen A, Ayvaz O, Balci S. Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development. Clin Dysmorphol. 2016 Jul;25(3):91-7.


362. 362- Pérez-Serra A, Toro R, Campuzano O, Sarquella-Brugada G, Berne P, Iglesias A, Mangas A, Brugada J, Brugada R. A novel mutation in lamin a/c causing familial dilated cardiomyopathy associated with sudden cardiac death. J Card Fail. 2015 Mar;21(3):217-25.


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364. 364- Motegi SI1, Yokoyama Y, Uchiyama A, Ogino S, Takeuchi Y, Yamada K, Hattori T, Hashizume H, Ishikawa Y, Goto M, Ishikawa O. First Japanese case of atypical progeroid syndrome/atypical Werner syndrome with heterozygous LMNA mutation. J Dermatol. 2014;41:1047-1052.


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369. 369- Heller F, Dabaj I, Mah JK, Bergounioux J, Essid A, Bönnemann CG, Rutkowski A, Bonne G, Quijano-Roy S, Wahbi K. Cardiac manifestations of congenital LMNA-related muscular dystrophy in children: three case reports and recommendations for care. Cardiol Young. 2016 Dec 12:1-7.


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371. 371- Zhang S, Zhang K, Jiang M, Zhao J. Hutchinson-Gilford progeria syndrome with scleroderma-like skin changes due to a homozygous missense LMNA mutation. J Eur Acad Dermatol Venereol. 2016 Mar;30(3):463-5.


372. 372- Liang WC, Tian X, Yuo CY, Chen WZ, Kan TM, Su YN, Nishino I, Wong LC, Jong YJ. Comprehensive target capture/next-generation sequencing as a second-tier diagnostic approach for congenital muscular dystrophy in Taiwan. PLoS One. 2017 Feb 9;12(2):e0170517.


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376. 376- Dal Ferro M, Stolfo D, Altinier A, Gigli M, Perrieri M, Ramani F, Barbati G, Pivetta A, Brun F, Monserrat L, Giacca M, Mestroni L, Merlo M, Sinagra G. Association between mutation status and left ventricular reverse remodelling in dilated cardiomyopathy. Heart. 2017 Apr 17.


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379. 379- Sepehrkhouy S, Gho JM, van Es R, Harakalova M, de Jonge N, Dooijes D, van der Smagt JJ, Buijsrogge MP, Hauer RN, Goldschmeding R, de Weger RA, Asselbergs FW, Vink A. Distinct fibrosis pattern in desmosomal and phospholamban mutation carriers in hereditary cardiomyopathies. Heart Rhythm. 2017 Mar 29. pii: S1547-5271(17)30356-9.


380. 380- Barateau A, Vadrot N, Vicart P, Ferreiro A, Mayer M, Héron D, Vigouroux C, Buendia B. A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus. PLoS One. 2017 Jan 26;12(1):e0169189.


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383. 383- Ambonville C, Bouldouyre MA, Laforêt P, Richard P, Benveniste O, Vigouroux C. A complex case of diabetes due to LMNA mutation. Rev Med Interne. 2017 May 22. French.


384. 384- Fountas A, Giotaki Z, Dounousi E, Liapis G, Bargiota A, Tsatsoulis A, Tigas S. Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C>T LMNA mutation. Endocrinol Diabetes Metab Case Rep. 2017 Jun 2;2017. pii: 17-0049.


385. 385- Angori S, Capanni C, Faulkner G, Bean C, Boriani G, Lattanzi G, Cenni V. Emery-Dreifuss Muscular Dystrophy-Associated Mutant Forms of Lamin A Recruit the Stress Responsive Protein Ankrd2 into the Nucleus, Affecting the Cellular Response to Oxidative Stress. Cell Physiol Biochem. 2017 May 25;42(1):169-184.


386. 386- Le Thanh P, Meinke P, Korfali N, Srsen V, Robson MI, Wehnert M, Schoser B, Sewry CA, Schirmer EC. Immunohistochemistry on a panel of Emery-Dreifuss muscular dystrophy samples reveals nuclear envelope proteins as inconsistent markers for pathology. Neuromuscul Disord. 2017 Apr;27(4):338-351.


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