Functional and Structural Characterization of ClC-1 and Na(v)1.4 Channels Resulting from CLCN1 and SCN4A 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(v)1.4 sodium channel. Here, we describe a family with members diagnosed with Thomsen’s disease. One novel mutation (p.W322*) in CLCN1 and one undescribed muta...

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Detalles Bibliográficos
Autores principales: Brenes, Oscar, Barbieri, Raffaella, Vásquez, Melissa, Vindas-Smith, Rebeca, Roig, Jeffrey, Romero, Adarli, del Valle, Gerardo, Bermúdez-Guzmán, Luis, Bertelli, Sara, Pusch, Michael, Morales, Fernando
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918176/
https://www.ncbi.nlm.nih.gov/pubmed/33670307
http://dx.doi.org/10.3390/cells10020374

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7918176/
https://www.ncbi.nlm.nih.gov/pubmed/33670307
http://dx.doi.org/10.3390/cells10020374

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