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Definition

An autosomal recessive degenerative myopathy characterized by rapidly progressive muscle wasting from early childhood with loss of independent ambulation around age 12 years, dystrophic pattern on muscle biopsy, absence of gamma-sarcoglycan and normal dystrophin immunostaining.

Acronym

LGMD2C

Synonyms

DMDA1
Duchenne-like muscular dystrophy autosomal recessive type 1
Sarcoglycan gamma deficiency
SCARMD
Severe childhood autosomal recessive muscular dystrophy North African type

Keywords

Limb-girdle muscular dystrophy

 
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