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

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 symptoms...

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Detalles Bibliográficos
Autores principales: Jehasse, Kevin, Jacquerie, Kathleen, de Froidmont, Alice, Lemoine, Camille, Grisar, Thierry, Stouffs, Katrien, Lakaye, Bernard, Seutin, Vincent
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8077071/
https://www.ncbi.nlm.nih.gov/pubmed/33507632
http://dx.doi.org/10.1002/mgg3.1588

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