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Article

[Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2012

Chen Zhi-ting, He Jin, Chen Wan-jin, Chen Sheng-gen, Lin Ji-lan, Ye Qin-yong, Huang Hua-pin

Abstract excerpt

OBJECTIVE: To investigate chloride channel 1 (CLCN1) gene mutation and clinical features of 2 Chinese patients with myotonia congenita. METHODS: Clinical data of a patient from a family affected with myotonia congenita in addition with a sporadic patient from Fujian province were analyzed. Exons of CLCN1 gene were amplified and sequenced. RESULTS: The proband from the affected family was found to carry a...

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Identifiers

PMID: 23225051
DOI: 10.3760/cma.j.issn.1003-9406.2012.06.014

Genes

CLCN1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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