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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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Principais autores: Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin
Format: Artigo
Sprog:Inglês
Udgivet: Wiley 2021-02-01
Serier:Molecular Genetics & Genomic Medicine
Fag:
channel gating
CLCN1
microscopy
myotonia
patch clamp
Online adgang:https://doi.org/10.1002/mgg3.1588
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