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Functional and Structural Characterization of ClC-1 and Na<sub>v</sub>1.4 Channels Resulting from <i>CLCN1</i> and <i>SCN4A</i> Mutations Identified Alone and Coexisting in Myotonic Patients

Non-dystrophic myotonias have been linked to loss-of-function mutations in the ClC-1 chloride channel or gain-of-function mutations in the Na<sub>v</sub>1.4 sodium channel. Here, we describe a family with members diagnosed with Thomsen’s disease. One novel mutation (p.W322*) in <i>CLCN1</i> and one...

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Principais autores: Oscar Brenes, Raffaella Barbieri, Melissa Vásquez, Rebeca Vindas-Smith, Jeffrey Roig, Adarli Romero, Gerardo del Valle, Luis Bermúdez-Guzmán, Sara Bertelli, Michael Pusch, Fernando Morales
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI AG 2021-02-01
coleção:Cells
Assuntos:
myotonia
chloride channel
sodium channel
<i>Xenopus</i> oocytes
electrophysiology
structure analysis
Acesso em linha:https://www.mdpi.com/2073-4409/10/2/374
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