Kitaguchi T, Matsubara S, Sato M, Miyamoto K, Hirai S, Schwartz K, Bonne G
Department of Neurology, Tokyo Metropolitan Neurological Hospital, 2-6-1 Musashidai, Fuchu, Tokyo 183-0042, Japan.
Neuromuscul Disord. 2001 Sep;11(6-7):542-6. doi: 10.1016/s0960-8966(01)00207-3.
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.
已记录了一例伴有房室传导阻滞的常染色体显性肢带型肌营养不良症（LGMD1B）病例。在这个家族中，13名成员，9名男性和4名女性，患有需要起搏器治疗的心律失常。先证者是一名67岁男性，长期存在近端肌无力，后来出现心律失常，但既没有僵硬脊柱也没有关节挛缩。他的肌肉酶在正常范围内，肌肉活检显示肌病性改变。对先证者的基因分析显示，在层粘连蛋白A/C（LMNA）基因的第8外显子中存在Tyr481His突变，该突变与家族性部分脂肪营养不良报告病例中突变的密码子相邻。这是日本家族中首次报告显示LMNA突变的肌营养不良症病例，也是第8外显子错义突变伴LGMD1B表型的首例病例。
