Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies

Myotonia congenita is an inherited disease that is characterized by impaired muscle relaxation after contraction caused by loss-of-function mutations in the skeletal muscle ClC-1 channel. We report a novel ClC-1 mutation, T335N, that is associated with a mild phenotype in 1 patient, located in the e...

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Detalhes bibliográficos
Publicado no:FASEB J
Main Authors: Imbrici, Paola, Altamura, Concetta, Camerino, Giulia Maria, Mangiatordi, Giuseppe Felice, Conte, Elena, Maggi, Lorenzo, Brugnoni, Raffaella, Musaraj, Kejla, Caloiero, Roberta, Alberga, Domenico, Marsano, Renè Massimiliano, Ricci, Giulia, Siciliano, Gabriele, Nicolotti, Orazio, Mora, Marina, Bernasconi, Pia, Desaphy, Jean-Francois, Mantegazza, Renato, Camerino, Diana Conte
Formato: Artigo
Idioma:Inglês
Publicado em: Federation of American Societies for Experimental Biology 2016
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Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5024700/
https://ncbi.nlm.nih.gov/pubmed/27324117
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1096/fj.201500079R
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