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-Reference-Cited by-同舟云学术

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

Published:2021-01-28 Issue:2 Volume:9 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Jehasse Kevin¹^ORCID,Jacquerie Kathleen²^ORCID,de Froidmont Alice¹,Lemoine Camille¹,Grisar Thierry³,Stouffs Katrien⁴^ORCID,Lakaye Bernard³,Seutin Vincent¹^ORCID

Affiliation:

1. Laboratory of Neurophysiology GIGA Institute Liege Belgium

2. Department of Electrical Engineering and Computer Science Liège University Liège Belgium

3. Laboratory of Molecular Regulation of Neurogenesis GIGA Institute Liège Belgium

4. Neurogenetics Research Group Vrije Universiteit Brussel (VUBUniversitair Ziekenhuis Brussel (UZ Brussel), Reproduction and Genetics Brussels Belgium

Funder

Université de Liège

Fonds De La Recherche Scientifique - FNRS

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1588

Reference21 articles.

1. Fast and Slow Gating Relaxations in the Muscle Chloride Channel Clc-1

2. Phenotypic variability in myotonia congenita

3. Thomsen myotonia-A 4-generation family with a new mutation and a mild phenotype

4. Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

5. A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

Cited by 2 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A pedigree of myotonia congenita with a novel mutation p.F343C of the <i>CLCN1</i> gene;Rinsho Shinkeigaku;2024

2. Hereditary myotonia in cats associated with a new homozygous missense variant p.Ala331Pro in the muscle chloride channel ClC‐1;Journal of Veterinary Internal Medicine;2023-09-05