# myofibrillar myopathy 5

> Human disease

**Wikidata**: [Q21505523](https://www.wikidata.org/wiki/Q21505523)  
**Source**: https://4ort.xyz/entity/myofibrillar-myopathy-5


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. A mutation in the dimerization domain of filamin c causes a novel type of autosomal dominant myofibrillar myopathy.
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/10057)
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGCIEX:assertion_10057)
7. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000128591/Orphanet_171445)
8. [Identifiers.org](https://registry.identifiers.org/registry/doid)