title: A cardio-neurological form of laminopathy: dilated cardiomyopathy with permanent partial atrial standstill and axonal neuropathy.
abstract: We present the first form of laminopathy connected with a new mutation of the lamin A/C gene expressed by dilated cardiomyopathy and partial atrial standstill associated with Charcot-Marie-Tooth type 2 axonal neuropathy. The rapid development of the cardiac disease was controlled by medical treatment and resynchronization therapy associated with a defibrillator.
authors.affiliation: Unité Rythmologie et Stimulation Cardiaque, CHU Rangueil, 1 Avenue Jean Poulhés-TSA 50032-31059 Toulouse Cedex 9, France. alexandre.duparc@laposte.net
authors.forename: Alexandre
authors.initials: A
authors.lastname: Duparc
authors.forename: Pascal
authors.initials: P
authors.lastname: Cintas
authors.forename: Elisabeth
authors.initials: E
authors.lastname: Somody
authors.forename: Eric
authors.initials: E
authors.lastname: Bieth
authors.forename: Pascale
authors.initials: P
authors.lastname: Richard
authors.forename: Philippe
authors.initials: P
authors.lastname: Maury
authors.forename: Marc
authors.initials: M
authors.lastname: Delay
mesh_terms: D000328:Adult; D001282:Atrial Flutter / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D001919:Bradycardia / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D002311:Cardiomyopathy, Dilated / Q000150:complications* / Q000175:diagnosis* / Q000235:genetics / Q000628:therapy; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D008297:Male
chemical_list: C494847:LMNA protein, human; D034904:Lamin Type A