Term Name: | autosomal dominant Emery-Dreifuss muscular dystrophy 2 |
---|---|
Synonyms: | autosomal dominant limb-girdle muscular dystrophy type 1B, EDMD2, EMD2, Emery-Dreifuss muscular dystrophy 2, autosomal dominant, Emery-Dreifuss muscular dystrophy, autosomal dominant, Hauptmann-Thannhauser muscular dystrophy, muscular dystrophy with early contractures and cardiomyopathy, autosomal dominant, scapuloilioperoneal atrophy with cardiopathy |
Definition: | An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22. |
Ontology: | Human Disease [DOID:0070247] ( DOID:0070247 ) |