# autosomal recessive limb-girdle muscular dystrophy type 2E

> 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

**Wikidata**: [Q27677700](https://www.wikidata.org/wiki/Q27677700)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2e


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000163069/MONDO_0011423)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)