# centronuclear myopathy

> myopathy characterized by abnormally located nuclei in skeletal muscle cells

**Wikidata**: [Q782958](https://www.wikidata.org/wiki/Q782958)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Centronuclear_myopathy)  
**Source**: https://4ort.xyz/entity/centronuclear-myopathy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. SPEG interacts with myotubularin, and its deficiency causes centronuclear myopathy with dilated cardiomyopathy
5. Heterozygous myogenic factor 6 mutation associated with myopathy and severe course of Becker muscular dystrophy
6. A gene mutated in X-linked myotubular myopathy defines a new putative tyrosine phosphatase family conserved in yeast
7. Mutations in dynamin 2 cause dominant centronuclear myopathy
8. Dominant Mutation of CCDC78 in a Unique Congenital Myopathy with Prominent Internal Nuclei and Atypical Cores
9. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/1a2b9d96-97da-473d-8147-a425a5364fcb--2020-04-27T16:00:00)
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_1a2b9d96-97da-473d-8147-a425a5364fcb-2020-04-27T160000.000Z)
11. BabelNet
12. [Identifiers.org](https://registry.identifiers.org/registry/doid)