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Definition

An autosomal recessive degenerative myopathy characterized by progressive muscle wasting from early childhood with loss of independent ambulation by teenage years. Muscle biopsy shows necrosis, decreased immunostaining for alpha sarcoglycan, and adhalin deficiency.

Acronym

LGMDR3

Synonyms

Adhalinopathy primary
DMDA2
Duchenne-like muscular dystrophy autosomal recessive type 2
LGMD2D
Limb-girdle muscular dystrophy 2D
Muscular dystrophy, limb-girdle, type 2D
SCARMD
Severe childhood autosomal recessive muscular dystrophy

Keywords

Limb-girdle muscular dystrophy

 
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