# autosomal recessive limb-girdle muscular dystrophy type 2G

> autosomal recessive limb-girdle muscular dystrophy that has material basis in mutation in the gene encoding telethonin (TCAP)

**Wikidata**: [Q1531333](https://www.wikidata.org/wiki/Q1531333)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2g


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Limb-girdle muscular dystrophy type 2G is caused by mutations in the gene encoding the sarcomeric protein telethonin
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_f3c6c72e-7c2b-42d4-963b-aeddbbe0e4fc-2021-10-12T160000.000Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000173991/MONDO_0011170)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)