# Emery-Dreifuss muscular dystrophy

> muscular dystrophy that chiefly affects muscles used for movement (skeletal) and heart (cardiac) muscle

**Wikidata**: [Q1335642](https://www.wikidata.org/wiki/Q1335642)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Emery–Dreifuss_muscular_dystrophy)  
**Source**: https://4ort.xyz/entity/emery-dreifuss-muscular-dystrophy


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Freebase Data Dumps. 2013
4. Klinická neurologie část speciální
5. Prevalence of muscular dystrophies: a systematic literature review
6. [Orphanet Rare Disease Ontology](https://www.orpha.net/consor/cgi-bin//OC_Exp.php?lng=EN&Expert=261)
7. Nesprin-1 and -2 are involved in the pathogenesis of Emery Dreifuss muscular dystrophy and are critical for nuclear envelope integrity
8. An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1
9. Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy.
10. Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy
11. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000160789/MONDO_0016830)
12. Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy
13. TMEM43 mutations in emery‐dreifuss muscular dystrophy‐related myopathy
14. [Identifiers.org](https://registry.identifiers.org/registry/doid)