title: Dystrophin analysis in idiopathic dilated cardiomyopathy.
abstract: Idiopathic dilated cardiomyopathy (DCM) is characterised by ventricular dilatation and impaired systolic function resulting in congestive heart failure and frequently death. A dilated cardiomyopathy is common in patients with symptomatic Duchenne/Becker muscular dystrophy, a disease caused by dystrophin gene defects. However, cardiomyopathy is rarely the predominant clinical feature of this form of muscular dystrophy. To determine whether dystrophin gene defects might account for a significant number of patients with apparently isolated idiopathic DCM, we performed dystrophin gene analysis in 27 DCM patients, who were ascertained as part of a prospective study on idiopathic DCM. No dystrophin gene defects were found in our patients, whose average age was 50 years. These data suggest that dystrophin defects are not a common cause of idiopathic DCM in this age group in the absence of skeletal muscle cramps or weakness.
authors.affiliation: Department of Medical Genetics, Mayo Clinic/Foundation, Rochester, Minnesota 55905.
authors.forename: V V
authors.initials: VV
authors.lastname: Michels
authors.forename: G M
authors.initials: GM
authors.lastname: Pastores
authors.forename: P P
authors.initials: PP
authors.lastname: Moll
authors.forename: D J
authors.initials: DJ
authors.lastname: Driscoll
authors.forename: F A
authors.initials: FA
authors.lastname: Miller
authors.forename: J C
authors.initials: JC
authors.lastname: Burnett
authors.forename: R J
authors.initials: RJ
authors.lastname: Rodeheffer
authors.forename: J A
authors.initials: JA
authors.lastname: Tajik
authors.forename: A H
authors.initials: AH
authors.lastname: Beggs
authors.forename: L M
authors.initials: LM
authors.lastname: Kunkel
mesh_terms: D015139:Blotting, Southern; D002311:Cardiomyopathy, Dilated / Q000235:genetics*; D004252:DNA Mutational Analysis; D016189:Dystrophin / Q000235:genetics*; D006801:Humans; D008297:Male; D016133:Polymerase Chain Reaction; D011446:Prospective Studies
chemical_list: D016189:Dystrophin