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Article

Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.

Journal of neurology - 1 Sept 1999

de Diego C, Gámez J, Plassart-Schiess E, Lasa A, Del Río E, Cervera C, Baiget M, Gallano P, Fontaine B

Abstract excerpt

Mutations in the muscular voltage-dependent chloride channel gene (CLCN1), located at 7q35, lead to recessive and dominant myotonia congenita. We report four novel mutations identified in this gene, after clinical, electromyographic, and genetic studies performed on 13 unrelated families. Two of the four mutations (2512insCTCA and A218T) were identified in families with Thomsen's disease, one (Q658X) in a family...

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

Share to Muscle Proteins

Share to Muscular Dystrophy, Duchenne

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Share to Polymorphism, Single-Stranded Conformational

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Source

Identifiers

PMID: 10525982
DOI: 10.1007/s004150050462

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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Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.PMID 10525982Read ↗

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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.Semantic proximity Read ↗

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

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.Semantic proximity Read ↗

Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.Semantic proximity Read ↗

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

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Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.Semantic proximity Read ↗

Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family.Semantic proximity Read ↗

[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita].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 ↗

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