title: A Japanese family carrying a novel mutation in the Emery-Dreifuss muscular dystrophy gene.
abstract: We report on a Japanese family affected by Emery-Dreifuss muscular dystrophy carrying a novel mutation of the emerin (STA) gene. The cardinal clinical feature of the family was cardiac conduction block and mild myopathy. A deletion of 11 bp with a frameshift was identified in exon 6, causing truncation of the predicted protein. The relationship between mutation and phenotype is discussed.
authors.affiliation: Department of Neurology, Faculty of Medicine, University of Tokyo, Japan.
authors.forename: Y
authors.initials: Y
authors.lastname: Ichikawa
authors.forename: M
authors.initials: M
authors.lastname: Watanabe
authors.forename: H
authors.initials: H
authors.lastname: Kowa
authors.forename: S
authors.initials: S
authors.lastname: Murayama
authors.forename: T
authors.initials: T
authors.lastname: Mizuno
authors.forename: I
authors.initials: I
authors.lastname: Komuro
authors.forename: R
authors.initials: R
authors.lastname: Ishiki
authors.forename: J
authors.initials: J
authors.lastname: Goto
authors.forename: I
authors.initials: I
authors.lastname: Kanazawa
mesh_terms: D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D005260:Female; D016368:Frameshift Mutation; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D009136:Muscular Dystrophies / Q000235:genetics*; D009687:Nuclear Proteins; D010375:Pedigree; D016133:Polymerase Chain Reaction; D013946:Thymopoietins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; D009687:Nuclear Proteins; D013946:Thymopoietins; C092710:emerin