# autosomal recessive limb-girdle muscular dystrophy type 2J

> autosomal recessive limb-girdle muscular dystrophy that has material basis in homozygous mutation in the titin gene (TTN)

**Wikidata**: [Q27677705](https://www.wikidata.org/wiki/Q27677705)  
**Source**: https://4ort.xyz/entity/autosomal-recessive-limb-girdle-muscular-dystrophy-type-2j


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000155657/MONDO_0012127)
6. [Identifiers.org](https://registry.identifiers.org/registry/doid)