Department of Neurology, Royal North Shore Hospital and University of Sydney, St. Leonards, New South Wales 2065, Australia.
Muscle Nerve. 2010 Mar;41(3):412-5. doi: 10.1002/mus.21610.
We investigated a 62-year-old man who had mild clinical features of myotonia congenita. He was found to have a novel heterozygous G-to-A nucleotide substitution at position 1652 in exon 15 of the CLCN1 gene. Clinicogenetic studies performed on his family revealed that his asymptomatic son also shared the mutation. We conclude that a novel chloride channel mutation (G1652A) has caused a mild form of autosomal-dominant myotonia congenita (Thomsen disease) in this family.
我们研究了一位 62 岁男性，他有轻度先天性肌强直的临床特征。发现他在 CLCN1 基因的 15 号外显子的 1652 位核苷酸有一个新的杂合 G 到 A 核苷酸取代。对其家族进行的临床遗传学研究表明，他无症状的儿子也携带该突变。我们得出结论，一种新的氯离子通道突变（G1652A）导致了这个家族的一种轻度常染色体显性遗传先天性肌强直（Thomsen 病）。
