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Article

Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.

Journal of molecular neuroscience : MN - 1 Nov 2021

Souza Lucas Santos, Calyjur Priscila, Ribeiro Antonio Fernando, Gurgel-Giannetti Juliana, Pavanello Rita Cassia Mingroni, Zatz Mayana, Vainzof Mariz

Abstract excerpt

Myotonia congenita is a genetic disease caused by mutations in the CLCN1 gene, which encodes for the major chloride skeletal channel ClC-1, involved in the normal repolarization of muscle action potentials and consequent relaxation of the muscle after contraction. Two allelic forms are recognized, depending on the phenotype and the inheritance pattern: the autosomal dominant Thomsen disease with milder symptoms...

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Source

Identifiers

PMID: 33464536
DOI: 10.1007/s12031-020-01785-4

Genes

CLCN1

Provenance

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.PMID 33464536Read ↗

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