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

doi:10.1096/fj.201500079R

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Article

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

FASEB journal : official publication of the Federation of American Societies for Experimental Biology - 1 Oct 2016

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

Abstract excerpt

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 extracellular I-J loop. The purpose of this study was to provide a solid correlation between T335N dysfunction and...

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Identifiers

PMID: 27324117
DOI: 10.1096/fj.201500079R
PMCID: PMC5024700

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