title: X-linked dilated cardiomyopathy with a large hot-spot deletion in the dystrophin gene.
abstract: A 36-year-old Japanese man was hospitalized with coughing and exertional dyspnea (NYHA class I). He was diagnosed as having congestive heart failure, and was treated with diuretics and a beta-adrenergic blocking agent. He responded well to the treatment and his symptoms completely disappeared within a few days. Based on his clinical, laboratory, and molecular genetic findings, he was diagnosed as having X-linked dilated cardiomyopathy (XLDCM). He was found to have a large deletion in the dystrophin gene, involving exons 45-55. This is the first report on a Japanese XLDCM patient with a mutation in the central hot-spot region of this gene.
authors.affiliation: Department of Interna Medicine, Fukuyama Cardiovascular Hospital, Hiroshima.
authors.forename: N
authors.initials: N
authors.lastname: Tasaki
authors.forename: K
authors.initials: K
authors.lastname: Yoshida
authors.forename: S I
authors.initials: SI
authors.lastname: Haruta
authors.forename: H
authors.initials: H
authors.lastname: Kouno
authors.forename: H
authors.initials: H
authors.lastname: Ichinose
authors.forename: Y
authors.initials: Y
authors.lastname: Fujimoto
authors.forename: N
authors.initials: N
authors.lastname: Urasawa
authors.forename: T
authors.initials: T
authors.lastname: Kawakami
authors.forename: M
authors.initials: M
authors.lastname: Taniguchi
authors.forename: S
authors.initials: S
authors.lastname: Kurushima
authors.forename: T
authors.initials: T
authors.lastname: Shimakura
mesh_terms: D000328:Adult; D002311:Cardiomyopathy, Dilated / Q000175:diagnosis* / Q000235:genetics*; D003937:Diagnosis, Differential; D016189:Dystrophin / Q000235:genetics*; D004562:Electrocardiography; D017353:Gene Deletion; D008040:Genetic Linkage / Q000235:genetics; D006801:Humans; D008297:Male; D010375:Pedigree; D016133:Polymerase Chain Reaction; D014960:X Chromosome / Q000235:genetics*
chemical_list: D016189:Dystrophin