骨骼肌-神经系统离子通道病

Brief review in channelopathies of skeletal muscule and nervous system

因为离子通道功能多样,因此发生异常改变可以引起多系统疾病。在过去的10余年里,研究发现肌肉、神经元、胶质细胞离子通道突变可以引起多种神经系统及肌肉疾病,被称为离子通道病。本文主要讨论骨骼肌神经系统离子通道病的临床表现和发病机制。

Ion channels serve important functions; its dysfunction can cause distinct pathophysiologicalchanges in tissues. Several neurological diseases caused by inherited mutations of ion channels of muscle, neuron, and glia many have been uncovered in the past decades. These diseases have come to be known as the “channelopathies”. This review mainly focuses on the clinical features and mechanisms of the neurological diseases that are caused by inherited ion-channel mutations.