Electrophysiological characteristics of R47W and A298T mutations in CLC-1 of myotonia congenita patients and evaluation of clinical features

Myotonia congenita (MC) is a genetic disease that displays impaired relaxation of skeletal muscle and muscle hypertrophy. This disease is mainly caused by mutations of CLCN1 that encodes human skeletal muscle chloride channel (CLC-1). CLC-1 is a voltage gated chloride channel that activates upon dep...

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Veröffentlicht in:	The Korean journal of physiology & pharmacology 2017-01, Vol.21 (4), p.439-447
Hauptverfasser:	Chin, Hyung Jin, Kim, Chan Hyeong, Ha, Kotdaji, Shin, Jin Hong, Kim, Dae-Seong, So, Insuk
Format:	Artikel
Sprache:	kor
Online-Zugang:	Volltext
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