| Variation name (cDNA level) | Variation name (protein level) | Variation status | Variation class |
| c.6439_7660del | p.Glu2147LeufsX22 | Heterozygous | Mutation |
| wt codon | wt aa | mutant codon | mutant aa | mutational event | mutation type |
| GAA | Glu | del1222a | Fs. | Stop at 2168 | Fr. |
| Structure | Key Residue (HCD) | Pyrimidin doublet | CpG |
| CRD-repeat #17 |
| At the mRNA level | On restriction map |
| New restriction site(s): none Lost restriction site(s): none |
| On isoforms (a blue cell indicates that the corresponding isoform is affected by the mutation) | ||||||
| Dp 427c | Dp 427m | Dp 427p | Dp 260 | Dp 140 | Dp 116 | Dp 71 |
| Immunofluorescence | ||||||
| dys 1 | dys 2 | dys 3 | ||||
| Mosaic Medium | ||||||
| Western Blot | ||
| dys 1 | dys 2 | dys 3 |
| Normal size, medium quantity | Normal size, medium quantity |
| Sample ID | Patient status | Gender | Transmission | Age of onset | Age of death | Geographic origin |
| ---141-0-2 | Proband | Female | Unknown | FRANCE |
| Phenotypic group |
| Symptomatic carrier |
| DMD carrier - Symptomatic |
| Reference ID | PubMed ID | Reference |
| 11 | 8530947 | Malapert D, Recan D, Leturcq F, Degos JD, Gherardi RK. Sporadic lower limb hypertrophy and exercise induced myalgia in a woman with dystrophin gene deletion. J Neurol Neurosurg Psychiatry. 1995 Nov;59(5):552-4. |