Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes()

Myotonia congenita (MC) is caused by loss-of-function mutations of the muscle ClC-1 chloride channel. Clinical manifestations include the variable association of myotonia and transitory weakness. We recently described a cohort of recessive MC patients showing, at a low rate repetitive nerves stimula...

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Detalles Bibliográficos
Autores principales: Desaphy, Jean-François, Gramegna, Gianluca, Altamura, Concetta, Dinardo, Maria Maddalena, Imbrici, Paola, George, Alfred L., Modoni, Anna, LoMonaco, Mauro, Conte Camerino, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Academic Press 2013
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781327/
https://www.ncbi.nlm.nih.gov/pubmed/23933576
http://dx.doi.org/10.1016/j.expneurol.2013.07.018

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3781327/
https://www.ncbi.nlm.nih.gov/pubmed/23933576
http://dx.doi.org/10.1016/j.expneurol.2013.07.018

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