autosomal dominant Emery-Dreifuss muscular dystrophy 2 (DOID:0070247)
Alliance: disease page
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
Alt IDs: OMIM:181350, ICD10CM:G71.0, ORDO:264
Definition: An Emery-Dreifuss muscular dystrophy that has_material_basis_in an autosomal dominant mutation of the LMNA gene on chromosome 1q22.