| Metadata | |
|---|---|
| ID | DOID:0110279 |
| Name | autosomal recessive limb-girdle muscular dystrophy 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. https://www.ncbi.nlm.nih.gov/pubmed/7581448 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Beta-sarcoglycanopathy [EXACT] LGMD2E [EXACT] Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency [EXACT] muscular dystrophy, limb-girdle, type 2E [EXACT] |
| Parent Relationships |