Lehmann-Horn F, Rüdel R
Department of Physiology, University of Ulm, Germany.
Semin Pediatr Neurol. 1996 Jun;3(2):122-39. doi: 10.1016/s1071-9091(96)80041-6.
The term channelopathy does not indicate a new group of neuromuscular conditions, but a re-orientation of well- and long-known muscular conditions, the congenital myotonias, and the periodic paralyses. Although, in the past, they have overlapped clinically here and there, both groups were classified differently, as myotonias and as metabolic myopathies, respectively. The discovery of mutations in several ion channels has rewritten nosography of these disorders and procured a new term, the channelopathy-clinical, electrophysiological, and molecular genetic details of which are discussed in this chapter.
通道病这一术语并不代表一组新的神经肌肉疾病，而是对一些熟知已久的肌肉疾病、先天性肌强直和周期性瘫痪的重新定位。尽管过去它们在临床上时有重叠，但这两组疾病的分类不同，分别被归类为肌强直和代谢性肌病。几种离子通道突变的发现改写了这些疾病的分类学，并产生了一个新术语——通道病，本章将讨论其临床、电生理及分子遗传学细节。
