Functional analysis of the F337C mutation in the CLCN1 gene associated with dominant myotonia congenita reveals an alteration of the macroscopic conductance and voltage dependence

ABSTRACT Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrate a novel one. Methods A patient presenting the sy...

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Autori principali:	Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Wiley 2021-02-01
Serie:	Molecular Genetics & Genomic Medicine
Soggetti:	channel gating CLCN1 microscopy myotonia patch clamp
Accesso online:	https://doi.org/10.1002/mgg3.1588
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