autosomal dominant Emery-Dreifuss muscular dystrophy 4

Term ID

DOID:0070249

Synonyms

• EDMD4
• Emery-Dreifuss muscular dystrophy 4 with variable features
• Emery-Dreifuss muscular dystrophy 4, autosomal dominant

Definition

An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the SYNE1 gene on chromosome 6q25.2. https://www.ncbi.nlm.nih.gov/pubmed/17761684

References

• MIM:612998

Ontology

Human Disease   ( DOID:0070249 )