Article
Expression and functional characterization of the cardiac L-type calcium channel carrying a skeletal muscle DHP-receptor mutation causing hypokalaemic periodic paralysis.
Pflugers Archiv : European journal of physiology - 1 Jan 1996
Lerche H, Klugbauer N, Lehmann-Horn F, Hofmann F, Melzer W
Abstract excerpt
A histidine substitution for the outermost arginine in II/S4 of the alpha1 subunit of the human skeletal muscle dihydropyridine (DHP) receptor has been reported to cause hypokalaemic periodic paralysis (HypoPP). This mutation shifts the voltage dependence of L-type Ca curent inactivation in myotubes from HypoPP patients by -40 mV without affecting activation. Based on the strong homology of II/S4 in cardiac and...
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