title: Cardioembolic stroke prompting diagnosis of LMNA-associated Emery-Dreifuss muscular dystrophy.
abstract: The diagnosis of Emery-Dreifuss muscular dystrophy (EDMD) is suggested by the combination of musculoskeletal weakness and wasting, joint contractures, and cardiac disease. Herein we report a patient in whom an ischemic stroke prompted the diagnosis of EDMD. A mutation in the LMNA gene (c.266G>T, p.Arg89Leu) was found. It had been reported previously exclusively with isolated cardiac disease, thus reinforcing the high phenotypic heterogeneity of laminopathies.
authors.affiliation: Department of Neurology, Hospital Virgen Macarena, Avenida Dr. Fedriani 3, 41071 Sevilla, Spain. lredondov@meditex.es
authors.forename: Luis
authors.initials: L
authors.lastname: Redondo-Vergé
authors.forename: Rabah Ben
authors.initials: RB
authors.lastname: Yaou
authors.forename: María
authors.initials: M
authors.lastname: Fernández-Recio
authors.forename: Luminita
authors.initials: L
authors.lastname: Dinca
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Gisèle
authors.initials: G
authors.lastname: Bonne
mesh_terms: D000328:Adult; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male; D020389:Muscular Dystrophy, Emery-Dreifuss / Q000235:genetics* / Q000503:physiopathology; D009154:Mutation; D017202:Myocardial Ischemia / Q000150:complications; D020521:Stroke / Q000150:complications* / Q000209:etiology
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A