title: A missense mutation in the exon 8 of lamin A/C gene in a Japanese case of autosomal dominant limb-girdle muscular dystrophy and cardiac conduction block.
abstract: A case of autosomal dominant limb-girdle muscular dystrophy with atrioventricular conduction block (LGMD1B) has been documented. In this family, 13 members, nine males and four females, had cardiac arrhythmia requiring pacemakers. The proband, a 67-year-old male, had longstanding proximal muscle weakness later associated with cardiac arrhythmia but showed neither rigid spine nor joint contracture. His muscle enzymes were within normal range and muscle biopsy showed myopathic changes. Gene analysis of the proband revealed Tyr481His mutation in the exon 8 of lamin A/C (LMNA) gene which is adjacent to the codon mutated in reported cases of familial partial lipodystrophy. This is the first report of muscular dystrophy shown to have a mutation of LMNA in a Japanese family as well as the first case of missense mutation in the exon 8 with LGMD1B phenotype.
authors.affiliation: Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Kitaguchi
authors.forename: S
authors.initials: S
authors.lastname: Matsubara
authors.forename: M
authors.initials: M
authors.lastname: Sato
authors.forename: K
authors.initials: K
authors.lastname: Miyamoto
authors.forename: S
authors.initials: S
authors.lastname: Hirai
authors.forename: K
authors.initials: K
authors.lastname: Schwartz
authors.forename: G
authors.initials: G
authors.lastname: Bonne
mesh_terms: D000368:Aged; D001706:Biopsy; D005091:Exons; D005260:Female; D005799:Genes, Dominant; D006327:Heart Block / Q000235:genetics*; D006801:Humans; D007564:Japan; D034904:Lamin Type A; D034882:Lamins; D008060:Lipodystrophy / Q000235:genetics / Q000473:pathology; D008297:Male; D009136:Muscular Dystrophies / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D009685:Nuclear Envelope / Q000473:pathology; D009687:Nuclear Proteins / Q000235:genetics*; D010375:Pedigree
chemical_list: D034904:Lamin Type A; D034882:Lamins; D009687:Nuclear Proteins