title: A novel dystrophin deletion mutation in a becker muscular dystrophy patient with early-onset dilated cardiomyopathy.
abstract: Becker muscular dystrophy (BMD) is a rare cause of dilated cardiomyopathy (DCM). We present a 23-year-old patient with BMD and early-onset DCM in whom cardiovascular magnetic resonance showed extensive myocardial late gadolinium enhancement and previously unreported findings of subepicardial fat infiltration in the lateral wall. In addition, this patient carried a rare mutation of dystrophin gene that might be a new genetic predisposition to early-onset DCM in BMD.
authors.affiliation: Department of Cardiology, Peking Union Medical College Hospital, Beijing, China.
authors.forename: Xiaoxiao
authors.initials: X
authors.lastname: Guo
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Beijing, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Dai
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Beijing, China.
authors.forename: Liying
authors.initials: L
authors.lastname: Cui
authors.affiliation: Department of Cardiology, Peking Union Medical College Hospital, Beijing, China. Electronic address: quanfangxjn2013@163.com.
authors.forename: Quan
authors.initials: Q
authors.lastname: Fang
mesh_terms: D002311:Cardiomyopathy, Dilated / Q000175:diagnosis / Q000209:etiology*; D016189:Dystrophin / Q000235:genetics*; D005091:Exons; D020022:Genetic Predisposition to Disease; D006801:Humans; D008297:Male; D020388:Muscular Dystrophy, Duchenne / Q000175:diagnosis* / Q000235:genetics*; D017384:Sequence Deletion; D055815:Young Adult
chemical_list: D016189:Dystrophin