Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.
Thr1313Met mutation in skeletal muscle sodium channels in a Japanese family with paramyotonia congenita.
复制标题
日本先天性副肌强直家族骨骼肌钠通道 Thr1313Met 突变。
作者：
M. Kinoshita;R. Sasaki;T. Nagano;A. Matsuda;Satoko Nakamura;Misato Takahama;Manabu Ohnuki;Hajime Hasegawa;T. Mitarai;K. Hirose
一名37岁的日本妇女从另一家诊所转诊，以确认先天性肌强直的诊断。她从小就经历过寒冷引起的肌强直和肌肉僵硬。在她的三个孩子中，她的大儿子和女儿的临床特征与她相似。在温暖的天气里，他们既不经历抓握也不经历敲击肌强直，而肌强直是由寒冷引起的。小儿子没有任何症状。SCN 4A基因的DNA分析显示，在所有三个受影响的家庭成员的SCN 4A（Thr1313Met）外显子22的核苷酸位置3938处的C到T的转换，但在未受影响的儿子。先天性副肌强直在日本的发病率很低，根据其临床特征和DNA分析结果诊断为先天性副肌强直。
A 37-year-old Japanese woman was referred from another clinic to confirm the diagnosis of myotonia congenita. She had experienced cold-induced myotonia and muscle stiffness from early childhood. Of her three children, her elder son and her daughter have clinical features similar to hers. They experience neither grip nor percussion myotonia during warm weather, whereas myotonia is provoked by cold. Her younger son has no symptoms. DNA analyses of the SCN4A gene showed a C to T transition at nucleotide position 3938 in exon 22 of SCN4A (Thr1313Met) in all three affected family members, but not in the unaffected son. Paramyotonia congenita, the prevalence of which is very low in Japan, was diagnosed based on their clinical features and DNA analysis results.
DOI：
10.1073/pnas.89.22.10910
发表时间：
1992-11-15
影响因子：
11.1
作者：
WEST, JW;PATTON, DE;CATTERALL, WA
通讯作者：
CATTERALL, WA
先天性副肌强直和高钾性周期性麻痹映射到相同的钠通道基因位点。
影响因子：
9.8
作者：
Ptacek,LJ;Trimmer,JS;Agnew,WS;Roberts,JW;Petajan,JH;Leppert,M
通讯作者：
Leppert,M
影响因子：
56.9
作者：
RAGSDALE, DS;MCPHEE, JC;CATTERALL, WA
通讯作者：
CATTERALL, WA