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Autosomal recessive limb-girdle muscular dystrophy type 2G
rareAutosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed.
- Identifiers
- MONDO:0011170 OMIM:601954Orphanet:34514
- Part of
- Autosomal recessive limb-girdle muscular dystrophyNeuromuscular disease caused by qualitative or quantitative defects of telethonin
- Also known as
- autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP · LGMD2G · limb-girdle muscular dystrophy due to telethonin deficiency · limb-girdle muscular dystrophy, type 2G · muscular dystrophy, limb-girdle, autosomal recessive 7
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