Limb-girdle muscular dystrophy type 2F

Alternate names[edit | edit source]

LGMD2F; Muscular dystrophy limb-girdle with delta-sarcoglyan deficiency

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.

Limb-girdle muscular dystrophy type 2F is a rare disease.

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Rare diseases - Limb-girdle muscular dystrophy type 2F
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