# autosomal recessive limb-girdle muscular dystrophy type R1

> autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous or compound heterozygous mutation in the gene encoding the proteolytic enzyme calpain-3 (CAPN3) on chromosome 15q15

**Wikidata**: [Q17177467](https://www.wikidata.org/wiki/Q17177467)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Calpainopathy)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-r1


## References

1. Disease Ontology
2. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A
3. [Identifiers.org](https://registry.identifiers.org/registry/doid)
4. UMLS 2023