Myotonia in a patient with a mutation in an S4 arginine residue associated with hypokalaemic periodic paralysis and a concomitant synonymous CLCN1 mutation

The sarcolemmal voltage gated sodium channel Na(V)1.4 conducts the key depolarizing current that drives the upstroke of the skeletal muscle action potential. It contains four voltage-sensing domains (VSDs) that regulate the opening of the pore domain and ensuing permeation of sodium ions. Mutations...

Descripción completa

Detalles Bibliográficos
Autores principales: Thor, Michael G., Vivekanandam, Vinojini, Sampedro-Castañeda, Marisol, Tan, S. Veronica, Suetterlin, Karen, Sud, Richa, Durran, Siobhan, Schorge, Stephanie, Kullmann, Dimitri M., Hanna, Michael G., Matthews, Emma, Männikkö, Roope
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6879752/
https://www.ncbi.nlm.nih.gov/pubmed/31772215
http://dx.doi.org/10.1038/s41598-019-54041-0

Ejemplares similares

Ejemplares similares