Autosomal recessive limb-girdle muscular dystrophy type 2C

MONDO:0009677

Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a childhood onset of progressive shoulder and pelvic girdle muscle weakness and atrophy frequently associated with calf hypertrophy, diaphragmatic weakness, and/or variable cardiac abnormalities. Mild to moderate elevated serum creatine kinase levels and positive Gowers sign are reported.

Also known as: DMDA1, LGMD2C, Maghrebian myopathy, SCARMD, SGCG autosomal recessive limb-girdle muscular dystrophy, autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG, autosomal recessive limb-girdle muscular dystrophy type 2C, gamma-sarcoglycanopathy

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