Table 1.
Genetic data of patients with hereditary myopathies. *In 5 of 8 cases of dystrophinopathy no deletion of the dystrophin gene could be identified, and a point mutation was not investigated so these cases were diagnosed by western blot and immunochemistry for dystrophin. ** Heterozygous mutation without detection of another mutation. Cases were diagnosed by western blot.
| Disease / Gene | patient | 1st allele | 2nd allele |
|---|---|---|---|
| LGMD2A / CAPN3 | 1 2 3 4 5 6 7 8 9 10 11 12 |
c.200-204delFWSAL c.550delA c.550delA c.550delA c.550delA c.550delA c.550delA c.550delA c.550delA p.Arg490Trp c.550delA p.Gly445Arg |
p.A705H c.550delA n.d.** n.d.** p.V509P n.d.** p.G565Stop p.A355T Intron13 1746-20C>G p.Arg489Trp c.550delA n.d.** |
| LGMD2B / DYSF | 1 2 3 4 |
c.2779delG c.763delC c.1930G>T in exon 20 c.247dupG |
n.d.** c.3059insC n.d.** c.C757T |
| LGMD2L / ANO5 | 1 2 3 |
c.191dupA c.191dupA c.191dupA |
p.R758C c.191dupA c.1898+1G>A |
| DMD/BMD / DMD | 1 2 3 4 5 6 7 8 |
n.d.* del exons 2-7 (in frame) n.d.* n.d.* n.d.* del exons 53-55 (frameshift) del exons 19-44 n.d.* |
n. a. n.a. n.a. n.a. n.a. n.a. n.a. n.a. |
BMD muscular dystrophy Becker type, DMD muscular dystrophy Duchenne type, LGMD limb girdle muscular dystrophy