Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2C |
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Synonyms: | autosomal recessive Duchenne-like muscular dystrophy type 1, deficiency of sarcoglycan gamma, DMDA1, gamma-sarcoglycanopathy, LGMD2C, limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency, Maghrebian myopathy, muscular dystrophy, limb-girdle, type 2C, SCARMD, severe childhood autosomal recessive muscular dystrophy North African type |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous mutation in the gamma-sarcoglycan gene (SGCG) on chromosome 13q12. |
Ontology: | Human Disease [DOID:0110277] ( DOID:0110277 ) |