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Autosomal recessive limb-girdle muscular dystrophy type 2B
rareAutosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed.
- Identifiers
- MONDO:0009676 OMIM:253601Orphanet:268
- Part of
- Autosomal recessive limb-girdle muscular dystrophyNeuromuscular disease caused by qualitative or quantitative defects of dysferlin
- Also known as
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF · DYSF autosomal recessive limb-girdle muscular dystrophy · LGMD2B · LGMD3 · limb-girdle muscular dystrophy due to dysferlin deficiency
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