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Article

In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.

European journal of human genetics : EJHG - 1 Aug 2008

Trip Jeroen, Drost Gea, Verbove Dennis J, van der Kooi Anneke J, Kuks Jan B M, Notermans Nicolette C, Verschuuren Jan J, de Visser Marianne, van Engelen Baziel G M, Faber Carin G, Ginjaar Ieke B

Abstract excerpt

Non-dystrophic myotonias (NDMs) are caused by mutations in CLCN1 or SCN4A. The purpose of the present study was to optimize the genetic characterization of NDM in The Netherlands by analysing CLCN1 and SCN4A in tandem. All Dutch consultant neurologists and the Dutch Patient Association for Neuromuscular Diseases (Vereniging Spierziekten Nederland) were requested to refer patients with an initial diagnosis of NDM...

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Source

Identifiers

PMID: 18337730
DOI: 10.1038/ejhg.2008.39

Genes

CLCN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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