autosomal recessive limb-girdle muscular dystrophy type 2C
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.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016143
qualitative or quantitative defects of gamma-sarcoglycan
is_a
MONDO:0016333
familial dilated cardiomyopathy
is_a
DMDA1
exact
LGMD2C
exact
Maghrebian myopathy
exact
SCARMD
exact
SGCG autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG
exact
autosomal recessive limb-girdle muscular dystrophy type 2C
exact
gamma-sarcoglycanopathy
exact
limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
exact
limb-girdle muscular dystrophy with gamma-sarcoglycan deficiency
related
limb-girdle muscular dystrophy, type 2C
related
muscular dystrophy, limb-girdle, autosomal recessive 5
exact
muscular dystrophy, limb-girdle, type 2C
exact