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

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 wea...

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Bibliographic Details
Published in:Neuromuscular disorders : NMD 2001-09, Vol.11 (6), p.542-546
Main Authors: Kitaguchi, Tetsuo, Matsubara, Shiro, Sato, Masaru, Miyamoto, Kazuhito, Hirai, Shunsaku, Schwartz, Ketty, Bonne, Gisèle
Format: Article
Language:English
Subjects:
Aged
Biopsy
Cardiac conduction block
Exons
Female
Genes, Dominant
Heart Block - genetics
Humans
Japan
Lamin A/C
Lamin Type A
Lamins
Limb-girdle muscular dystrophy
Lipodystrophy
Lipodystrophy - genetics
Lipodystrophy - pathology
Male
Muscular Dystrophies - genetics
Muscular Dystrophies - pathology
Mutation, Missense
Nuclear Envelope - pathology
Nuclear membrane
Nuclear Proteins - genetics
Pedigree
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Summary: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.
ISSN:0960-8966
1873-2364
DOI:10.1016/S0960-8966(01)00207-3