# autosomal recessive limb-girdle muscular dystrophy type 2Q

> autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the PLEC1 gene

**Wikidata**: [Q27677707](https://www.wikidata.org/wiki/Q27677707)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2q


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000178209/MONDO_0013390)
6. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)