Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2E |
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Synonyms: | Beta-sarcoglycanopathy, LGMD2E, Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency, muscular dystrophy, limb-girdle, type 2E |
Definition: | An autosomal recessive limb-girdle muscular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding beta-sarcoglycan (SGCB) on chromosome 4q12. |
Ontology: | Human Disease [DOID:0110279] ( DOID:0110279 ) |