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Article

Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents.

Acta neurologica Belgica - 1 Dec 2018

Sahin Ibrahim, Erdem Haktan B, Tan Huseyin, Tatar Abdulgani

Abstract excerpt

Myotonia congenita is an inherited muscle disease present from childhood that is characterized by impaired muscle relaxation after contraction resulting in muscle stiffness; moreover, skeletal striated muscle groups may be involved. Myotonia congenita occurs due to chloride (Cl) channel mutations that reduce the stabilizing Cl conductance, and it is caused by mutations in the CLCN1 gene. This paper describes four...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 29480456
DOI: 10.1007/s13760-018-0893-0

Genes

CLCN1

Variants

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.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents.PMID 29480456Read ↗

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

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

Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia CongenitaSemantic proximity Read ↗

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

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.Semantic proximity Read ↗

Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.Semantic proximity Read ↗

CLCN1 Molecular Characterization in 19 South-Italian Patients With Dominant and Recessive Type of Myotonia CongenitaSemantic proximity Read ↗

Myotonia congenita in a large consanguineous Arab family: insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 gene.Semantic proximity Read ↗

Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.Semantic proximity Read ↗

[A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].Semantic proximity Read ↗

Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.Semantic proximity Read ↗

Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.Semantic proximity Read ↗

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