Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.

doi:10.1002/mus.28180

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Article

Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.

Muscle & nerve - 1 Aug 2024

Marinakis Nikolaos M, Svingou Maria, Papadimas Giorgos-Konstantinos, Papadopoulos Constantinos, Chroni Elisabeth, Pons Roser, Pavlou Evangelos, Sarmas Ioannis, Kosma Konstantina, Apostolou Paraskevi, Sofocleous Christalena, Traeger-Synodinos Joanne, Kekou Kyriaki

Abstract excerpt

INTRODUCTION/AIMS: Myotonia congenita (MC) is the most common hereditary channelopathy in humans. Characterized by muscle stiffness, MC may be transmitted as either an autosomal dominant (Thomsen) or a recessive (Becker) disorder. MC is caused by variants in the voltage-gated chloride channel 1 (CLCN1) gene, important for the normal repolarization of the muscle action potential. More than 250 disease-causing...

Topics

Humans
Myotonia Congenita
Chloride Channels
Female
Male
Greece
Adult
Middle Aged
Genotype
Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Young Adult

Adolescent

Child

Aged

Mutation

Child, Preschool

Genetic Association Studies

Phenotype

Source

Open in PubMed

Identifiers

PMID: 38855810
DOI: 10.1002/mus.28180

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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