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Article

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

Neurology - 1 Feb 1997

Sloan Brown K, George A L

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Share to Calcium Channels
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 9040760
DOI: 10.1212/wnl.48.2.542

Genes

CLCN1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

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Research trail→

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Inheritance of three distinct muscle chloride channel gene (CLCN1) mutations in a single recessive myotonia congenita family.PMID 9040760Read ↗

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

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

Gene symbol: CLCN1. Disease: Myotonia congenita.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 ↗

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 ↗

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

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

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

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

Novel deep intronic variant in CLCN1 causing autosomal recessive myotonia congenitaSemantic proximity Read ↗

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