Last update: 31/01/2013
|This database includes
subjects, among which 308 were published
( 133 different mutations and 88 variants)
This database has been compiled to provide up-to-date information about mutations of the LMNA gene. It aims at making the information readily accessible to anyone interested in the genetic variations of the LMNA gene, and to provide an easy way for those who investigate these variations to report their most recent findings. It has been initiated in the context of the European Myo-Cluster/Euromen project (Merlini. Neuromusc Disord. 2001;11(1): 102)
The database of LMNA mutations was developed using the ‘Universal Mutation Database’ tool.
When the same mutation from the same patient was reported in more than one article, only the first report was taken into account. In such cases, the subsequent reports are indicated within the attached comment to keep track of the redunduncy.
For each mutation, information is provided at several levels:
The list of mutations was collated from published articles and abstracts, from presentations at meetings, and from personal communications. If you use these data, please refer in your publications to UMD-LMNA at www.umd.be until full publication of this database.
Please look at “the gene”, “the proteins”, and “the clinics” buttons (left panel) for further details on LMNA, Lamins A/C and Laminopathies.
For mutation details, use tools available via the “Mutations” button.
More than twenty types of analyses can be performed via the “Statistics” button.
The “references” button allows the selection of references included in the UMD-LMNA database.
You found a mutation and you want to know if it was identified and published elsewhere, please go to “Mutations” button.
Submission of new LMNA mutation: Together with the genetic details of the mutation, we also provide, when available, detailed clinical data of each individual carrying a LMNA mutation, using a clinical form “MyoCluster form”.
Please contact Gisèle Bonne.
Redundancy control : UMD-LMNA database curators tried to avoid any patient redundancy. The crosschecking procedures are based on the patients and families codes and ages appearing in the corresponding publications. Authors are highly encouraged to use clear identifiers to indicate patients and their families (avoid identifiers such as patient or case...). The same indentifiers should be used if published in more than one paper. If any redundancy has not been taken into account by the curators, please notify it to Gisèle Bonne or Rabah Ben Yaou .
For further details, please refer to Directive 96/9/EC of the European Parliament and of the Council of 11 March 1996 on the legal protection of databases