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Article

Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.

Neurological research - 1 Jan 2016

Meng Yan-Xin, Zhao Zhe, Shen Hong-Rui, Bing Qi, Hu Jing

Abstract excerpt

OBJECTIVES: The identification of disease-specific genetic and electrophysiological patterns for myotonia congenital (MC) could help clinicians apply in the findings of genetic studies to improve diagnosis. We examined the molecular, clinical, and histopathological characteristics of eight patients with MC. METHODS: Optimization PCR was used to exclude myotonic dystrophies and the CLCN1 gene was sequenced in...

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Source

Identifiers

PMID: 27118449
DOI: 10.1080/01616412.2015.1114741

Genes

CLCN1

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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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