Limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetically determined muscle disorders with a primary or predominant involvement of the pelvic or shoulder girdle musculature. More than 20 genes with autosomal recessive (LGMD2A to LGMD2Q) and autosomal dominant inheritance (LGMD1A to LGMD1H) have been mapped/identified to date.
Dysferlinopathies are autosomal recessive disorders caused by mutations in the dysferlin (DYSF) gene encoding the dysferlin protein. DYSF mutations lead to a wide range of muscular phenotypes, with the most prominent being Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B).
Clinical trial on LGMD ongoing at the Institute:
- Dysferlinopathy: A clinical outcome study of dysfernopathy
| Acronym | Dysferlinopathy |
| Study type | RBM-HPS |
| Trial type | International multicentre trial |
| Principal investigator | Tania Stojkovitck |
| Sponsor | AP-HM |
| Study status | Ongoing |
| Recruitment status | Closed |
| Population | Adult |
| + infos on clinicaltrials.gov |
