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Definition

An autosomal recessive degenerative myopathy with age of onset ranging from childhood to adult life, and variable severity. Clinical features include proximal muscle weakness, waddling gait, calf hypertrophy, cardiomyopathy and respiratory insufficiency. A reduction of alpha-dystroglycan and laminin alpha-2 expression can be observed on skeletal muscle biopsy from MDDGC5 patients.

Acronym

MDDGC5

Synonyms

LGMD2I
LGMDR9
Limb-girdle muscular dystrophy type 2I
Muscular dystrophy, limb-girdle, autosomal recessive 9
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5
Muscular dystrophy-dystroglycanopathy limb-girdle FRKP-related

Keywords

Limb-girdle muscular dystrophy
Dystroglycanopathy

 
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