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Article

A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.

Muscle & nerve - 1 Mar 2010

Kumar Kishore R, Ng Karl, Vandebona Himesha, Davis Mark R, Sue Carolyn M

Abstract excerpt

We investigated a 62-year-old man who had mild clinical features of myotonia congenita. He was found to have a novel heterozygous G-to-A nucleotide substitution at position 1652 in exon 15 of the CLCN1 gene. Clinicogenetic studies performed on his family revealed that his asymptomatic son also sh...

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Source

Identifiers

PMID: 20120005
DOI: 10.1002/mus.21610

Genes

CLCN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20120005-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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