# proximal myopathy with extrapyramidal signs

> human disease

**Wikidata**: [Q55784771](https://www.wikidata.org/wiki/Q55784771)  
**Source**: https://4ort.xyz/entity/proximal-myopathy-with-extrapyramidal-signs


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Loss-of-function mutations in MICU1 cause a brain and muscle disorder linked to primary alterations in mitochondrial calcium signaling
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000107745/MONDO_0014300)
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)