| Term Name: | autosomal recessive limb-girdle muscular dystrophy type 2E |
|---|---|
| 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 ) |