Autosomal recessive limb-girdle muscular dystrophy type 2C
Autosomal recessive limb-girdle muscular dystrophy type 2C
Definition
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 autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG, autosomal recessive limb-girdle muscular dystrophy type 2C, DMDA1, gamma-sarcoglycanopathy, LGMD2C, limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency, Maghrebian myopathy, muscular dystrophy, limb-girdle, autosomal recessive 5, muscular dystrophy, limb-girdle, type 2C, SCARMD, SGCG autosomal recessive limb-girdle muscular dystrophy — per MONDO