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Article

Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita.

Pflugers Archiv : European journal of physiology - 1 Oct 1998

Fleischhauer R, Mitrovic N, Deymeer F, Lehmann-Horn F, Lerche H

Abstract excerpt

The F1473S mutation of the adult human skeletal muscle Na+ channel causes paramyotonia congenita, a disease characterized by muscle stiffness sometimes followed by weakness in a cold environment. The symptoms are relieved by the local anaesthetic mexiletine. This mutation, which resides in the cytoplasmic S4-S5 loop in domain IV of the alpha-subunit, was studied by heterologous expression in HEK293 cells using...

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PMID: 9716710
DOI: 10.1007/s004240050699

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Effects of temperature and mexiletine on the F1473S Na+ channel mutation causing paramyotonia congenita.PMID 9716710Read ↗

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