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Definition

An autosomal dominant myopathy characterized by proximal muscle weakness primarily affecting the lower limbs, but also affecting the upper limbs in most patients. Affected individuals also have distal muscle weakness of the hands and lower leg muscles. The disease has generally a benign clinical course but some individuals with childhood or juvenile onset manifest severe widespread myopathy, leading to wheelchair dependency and respiratory insufficiency. Muscle biopsy shows dystrophic changes with abnormal nuclei, rimmed vacuoles, and filamentous inclusions.

Acronym

LGMDD2

Synonyms

LGMD1F
Limb-girdle muscular dystrophy 1F
Muscular dystrophy, limb-girdle, type 1F

Keywords

Limb-girdle muscular dystrophy

 
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