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A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

✍ Scribed by Brugnoni, Raffaella; Kapetis, Dimos; Imbrici, Paola; Pessia, Mauro; Canioni, Eleonora; Colleoni, Lara; de Rosbo, Nicole Kerlero; Morandi, Lucia; Cudia, Paola; Gashemi, Nasrin; Bernasconi, Pia; Desaphy, Jean-Francois; Conte, Diana; Mantegazza, Renato

Book ID: 120404490
Publisher: Nature Publishing Group
Year: 2013
Tongue: English
Weight: 847 KB
Volume: 58
Category: Article
ISSN: 1435-232X
DOI: 10.1038/jhg.2013.58

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Myotonia congenita is a genetic disease characterized by impaired muscle relaxation after forceful contraction (myotonia) and caused by mutations in the chloride channel voltage-sensitive 1 (CLCN1) gene, encoding the voltage-gated chloride channel of skeletal muscle (ClC-1). In a large cohort of cli

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