Genetic analysis of DYSF mutations in Iranian families with limb-girdle muscular dystrophy

Takeaway

  • This genetic study of Iranian families with autosomal recessive limb-girdle muscular dystrophy (LGMD) identified 2 new mutations in DYSF and a potential founder mutation.

Why this matters

    This is the first report of 2 new mutations, which may be screened for during genetic analysis to distinguish dysferlinopathy from myositis.