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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.
Jehasse, Kevin; Jacquerie, Kathleen; de Froidmont, Alice; Lemoine, Camille; Grisar, Thierry; Stouffs, Katrien; Lakaye, Bernard; Seutin, Vincent.
  • Jehasse K; Laboratory of Neurophysiology, GIGA Institute, Liege, Belgium.
  • Jacquerie K; Department of Electrical Engineering and Computer Science, Liège University, Liège, Belgium.
  • de Froidmont A; Laboratory of Neurophysiology, GIGA Institute, Liege, Belgium.
  • Lemoine C; Laboratory of Neurophysiology, GIGA Institute, Liege, Belgium.
  • Grisar T; Laboratory of Molecular Regulation of Neurogenesis, GIGA Institute, Liège, Belgium.
  • Stouffs K; Neurogenetics Research Group, Vrije Universiteit Brussel (VUB, Universitair Ziekenhuis Brussel (UZ Brussel), Reproduction and Genetics, Brussels, Belgium.
  • Lakaye B; Laboratory of Molecular Regulation of Neurogenesis, GIGA Institute, Liège, Belgium.
  • Seutin V; Laboratory of Neurophysiology, GIGA Institute, Liege, Belgium.
Mol Genet Genomic Med ; 9(2): e1588, 2021 02.
Article en En | MEDLINE | ID: mdl-33507632
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Canales de Cloruro / Mutación Missense / Miotonía Congénita Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article
Texto completo
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Canales de Cloruro / Mutación Missense / Miotonía Congénita Tipo de estudio: Risk_factors_studies Límite: Humans Idioma: En Año: 2021 Tipo del documento: Article