# multiminicore myopathy

> Multi-minicore Disease (MmD) is a hereditary neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy

**Wikidata**: [Q1952336](https://www.wikidata.org/wiki/Q1952336)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Multi/minicore_myopathy)  
**Source**: https://4ort.xyz/entity/multiminicore-myopathy


## References

1. Monarch Disease Ontology release 2018-06-29
2. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000196218/MONDO_0018948)
4. Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.