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Definition

An autosomal recessive degenerative myopathy characterized by weakness and atrophy starting in the proximal pelvifemoral muscles, with onset in the late teens or later, massive elevation of serum creatine kinase levels and slow progression. Scapular muscle involvement is minor and not present at onset. Upper limb girdle involvement follows some years after the onset in lower limbs.

Acronym

LGMDR2

Synonyms

LGMD2B
LGMD3
Limb-girdle muscular dystrophy 2B
Muscular dystrophy, limb-girdle, type 2B
Muscular dystrophy, limb-girdle, type 3

Keywords

Limb-girdle muscular dystrophy

 
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