X-linked Emery-Dreifuss muscular dystrophy 1 (DOID:0070246)
Alliance: disease page
Synonyms: EDMD1; EMD1; Emery-Dreifuss muscular dystrophy 1, X-linked; humeroperoneal neuromuscular disease; muscular dystrophy, tardive, Dreifuss-Emery type, with contractures; scapuloperoneal syndrome, X-linked
Alt IDs: OMIM:310300
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an X-linked recessive mutation of EMD on chromosome Xq28.