Disease - Muscular dystrophy-dystroglycanopathy limb-girdle C5
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
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
Disclaimer
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