Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2A |
---|---|
Synonyms: | Leyden-Moebius muscular dystrophy, LGMD2A, limb-girdle muscular dystrophy due to calpain deficiency, muscular dystrophy, limb-girdle, type 2A, pelvofemoral muscular dystrophy, primary calpainopathy |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15. |
Ontology: | Human Disease [DOID:0110275] ( DOID:0110275 ) |