autosomal recessive limb-girdle muscular dystrophy type 2F
Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal.
MONDO:0015152
autosomal recessive limb-girdle muscular dystrophy
is_a
MONDO:0016144
qualitative or quantitative defects of delta-sarcoglycan
is_a
MONDO:0016333
familial dilated cardiomyopathy
is_a
LGMD2F
exact
SGCD autosomal recessive limb-girdle muscular dystrophy
exact
autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD
exact
delta-sarcoglycanopathy
broad
limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency
exact
limb-girdle muscular dystrophy type 2F
related
muscular dystrophy limb-girdle with delta-sarcoglyan deficiency
related
muscular dystrophy, limb-girdle, autosomal recessive 6
exact
muscular dystrophy, limb-girdle, type 2F
related