# autosomal recessive limb-girdle muscular dystrophy type 2T

> autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the GMPPB gene encoding the beta subunit of GDP-mannose pyrophosphorylase on chromosome 3p21

**Wikidata**: [Q27677713](https://www.wikidata.org/wiki/Q27677713)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2t


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)
6. UMLS 2023