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Article

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.

Neurology - 1 Oct 1996

Zhang J, George A L, Griggs R C, Fouad G T, Roberts J, Kwieciński H, Connolly A M, Ptácek L J

Abstract excerpt

Myotonia, defined as delayed relaxation of muscle after contraction, is seen in a group of genetic disorders that includes autosomal dominant myotonia congenita (Thomsen's disease) and autosomal recessive myotonia congenita (Becker's disease). Both disorders are characterized electrophysiologically by increased excitability of muscle fibers, reflected in clinical myotonia. These diseases are similar except that...

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Source

Identifiers

PMID: 8857733
DOI: 10.1212/wnl.47.4.993

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.

Related research

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Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.PMID 8857733Read ↗

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

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.Semantic proximity Read ↗

Novel CLCN1 mutations with unique clinical and electrophysiological consequences.Semantic proximity Read ↗

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

Characterization of two new dominant ClC-1 channel mutations associated with myotonia.Semantic proximity Read ↗

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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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 ↗

ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing MutationsSemantic proximity Read ↗

Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia.Semantic proximity Read ↗

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