Sakoda S, Nakagawa M, Arimura Y, Arimura K, Osame M
Department of Neurology, Shonan Hospital.
Nihon Rinsho. 1997 Dec;55(12):3253-8.
Recent work has revealed that familial hyperkalemic periodic paralysis, paramyotonia congenita and other non-dystrophic myotonias result from point mutations in the gene encoding the alpha-subunit of the adult human skeletal muscle sodium channel (SCN4A). Sodium channel myotonias are a diverse group of skeletal muscle disorders that share a common pathophysiological mechanism: all are caused by impaired rapid inactivation of skeletal muscle sodium channel. Clinical studies, pharmacology, electrophysiology and molecular genetics have contributed to an elucidation of the genotype-phenotype correlation within these disorders. This article briefly reviews recent advances in our understanding of skeletal muscle sodium channel and sodium channel myotonias. The application of LA-PCR to the SCN4A gene analysis is also referred.
近期研究表明，家族性高钾性周期性麻痹、先天性副肌强直及其他非营养不良性肌强直均由编码成人骨骼肌钠通道α亚基（SCN4A）的基因突变所致。钠通道肌强直是一组多样的骨骼肌疾病，具有共同的病理生理机制：均由骨骼肌钠通道快速失活受损引起。临床研究、药理学、电生理学及分子遗传学均有助于阐明这些疾病的基因型-表型相关性。本文简要综述了我们对骨骼肌钠通道及钠通道肌强直认识的最新进展。还提及了LA-PCR在SCN4A基因分析中的应用。
