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

ConclusionTo our knowledge, this is the first report of a mixed alteration in the biophysical properties of hClC ‐1 consisting of a reduced conductance at resting potential and an almost abolished voltage dependence.

Source: Molecular Genetics & Genomic Medicine - January 28, 2021 Category: Genetics & Stem Cells Authors: Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin Tags: ORIGINAL ARTICLE Source Type: research