# central core myopathy

> Human disease

**Wikidata**: [Q638975](https://www.wikidata.org/wiki/Q638975)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Central_core_disease)  
**Source**: https://4ort.xyz/entity/central-core-myopathy


## References

1. Disease Ontology
2. Freebase Data Dumps. 2013
3. Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia
4. A mutation in the human ryanodine receptor gene associated with central core disease
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/EFO_1000855)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/Orphanet_597)
7. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
8. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)