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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Federation of American Societies for Experimental Biology 2016
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024700/
https://www.ncbi.nlm.nih.gov/pubmed/27324117
http://dx.doi.org/10.1096/fj.201500079R

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5024700/
https://www.ncbi.nlm.nih.gov/pubmed/27324117
http://dx.doi.org/10.1096/fj.201500079R

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