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Definition

An autosomal recessive degenerative myopathy characterized by progressive symmetrical atrophy and weakness of the proximal limb muscles and elevated serum creatine kinase. The symptoms usually begin during the first two decades of life, and the disease gradually worsens, often resulting in loss of walking ability 10 or 20 years after onset.

Acronym

LGMDR1

Synonyms

Calpainopathy
Leyden-Moebious muscular dystrophy
LGMD2
LGMD2A
Limb-girdle muscular dystrophy 2A
Muscular dystrophy, limb-girdle, type 2
Muscular dystrophy, limb-girdle, type 2A
Muscular dystrophy, pelvofemoral

Keywords

Limb-girdle muscular dystrophy

 
Disclaimer

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