ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype–phenotype correlation

Myotonia congenita is an inherited disease caused by loss-of-function mutations of the skeletal muscle ClC-1 chloride channel, characterized by impaired muscle relaxation after contraction and stiffness. In the present study, we provided an in-depth characterization of F484L, a mutation previously i...

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Detalhes bibliográficos
Publicado no:J Physiol
Main Authors: Imbrici, P, Maggi, L, Mangiatordi, G F, Dinardo, M M, Altamura, C, Brugnoni, R, Alberga, D, Pinter, G Lauria, Ricci, G, Siciliano, G, Micheli, R, Annicchiarico, G, Lattanzi, G, Nicolotti, O, Morandi, L, Bernasconi, P, Desaphy, J-F, Mantegazza, R, Camerino, D Conte
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley & Sons, Ltd 2015
Assuntos:
Special Section: Twenty-Five Years of Clc Transport Proteins
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4594292/
https://ncbi.nlm.nih.gov/pubmed/26096614
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1113/JP270358
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