autosomal dominant Emery-Dreifuss muscular dystrophy 7

Term ID

DOID:0070252

Synonyms

• EDMD7
• Emery-Dreifuss muscular dystrophy 7, autosomal dominant

Definition

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the TMEM43 gene on chromosome 3p25.1. https://www.ncbi.nlm.nih.gov/pubmed/21391237

References

• OMIM:614302

Ontology

Human Disease   ( DOID:0070252 )