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
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- 作者：Kitaguchi ; Tetsuo ; Matsubara ; Shiro ; Sato ; Masaru ; Miyamoto ; Kazuhito ; Hirai ; Shunsaku ; Schwartz ; Ketty ; et. al.
- 关键词：Limb-girdle muscular dystrophy ; Cardiac conduction block ; Lamin A/C ; Nuclear membrane ; Lipodystrophy
- 刊名：Neuromuscular Disorders
- 出版年：2001
- 出版时间：September, 2001
- 年：2001
- 卷：11
- 期：6-7
- 页码：542-546
- 全文大小：525 K
文摘
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.