Fontaine B, Trofatter J, Rouleau G A, Khurana T S, Haines J, Brown R, Gusella J F
Molecular Neurogenetics Laboratory, Massachusetts General Hospital, Charlestown.
Neuromuscul Disord. 1991;1(4):235-8. doi: 10.1016/0960-8966(91)90095-a.
The periodic paralyses are dominantly inherited disorders in which patients acutely develop muscle weakness in association with changes in the level of blood potassium. We recently reported genetic linkage of hyperkalemic periodic paralysis (HIKPP) to the gene encoding the adult form of the skeletal muscle sodium channel on the long arm of chromosome 17. In this paper, we exclude genetic linkage between hypokalemic periodic paralysis (HOKPP) and this sodium channel gene, demonstrating that there is non-allelic genetic heterogeneity among different forms of periodic paralysis. Electrophysiological abnormalities in muscle sodium conductance have been reported for both HIKPP and HOKPP as well as other muscle disorders characterized by membrane hyperexcitability or myotonia (myotonia congenita, paramyotonia congenita and the Schwartz-Jampel syndrome). The possibility that there may be a family of human muscle diseases arising from mutations in the sodium channel suggests these disorders may be classified by categories of mutations within this critical voltage-sensitive membrane protein.
周期性麻痹是显性遗传性疾病，患者会随着血钾水平的变化而急性出现肌无力。我们最近报告了高钾性周期性麻痹（HIKPP）与位于17号染色体长臂上编码成年型骨骼肌钠通道的基因存在遗传连锁关系。在本文中，我们排除了低钾性周期性麻痹（HOKPP）与该钠通道基因之间的遗传连锁关系，证明不同形式的周期性麻痹之间存在非等位基因遗传异质性。高钾性周期性麻痹和低钾性周期性麻痹以及其他以膜兴奋性过高或肌强直（先天性肌强直、先天性副肌强直和施瓦茨-扬佩尔综合征）为特征的肌肉疾病均有肌肉钠电导电生理异常的报道。钠通道突变可能引发一系列人类肌肉疾病，这表明这些疾病可能根据这一关键电压敏感性膜蛋白内的突变类别进行分类。
