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Article

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

Journal of human genetics - 1 Sept 2013

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

Abstract excerpt

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 clinically diagnosed unrelated probands, we identified 75 different CLCN1 mutations in 106 individuals, among which 29...

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Source

Identifiers

PMID: 23739125
DOI: 10.1038/jhg.2013.58

Genes

CLCN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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