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[Analysis of CLCN1 gene mutations in a family affected with myotonia congenita].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 10 Jun 2018

Jing Feng, Li Haijiang, Yang Dan, Chen Tao, Liu Yuexian, Yu Lidan

Abstract excerpt

OBJECTIVE: To detect potential mutations of chloride channel l (CLCN1) gene in a family affected with myotonia congenita. METHODS: Clinical data of the proband and her parents and brother was collected. The coding regions of the CLCN1 gene were subjected to PCR and Sanger sequencing. RESULTS: Two missense mutations (c.937G>A and c.1205C>T), which were respectively located within exons 8 and 11 of the CLCN1 gene,...

Topics

Adolescent
Adult
Base Sequence
Chloride Channels
Exons
Female
Humans
Male
Molecular Sequence Data
Mutation
Myotonia Congenita

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Pedigree

Point Mutation

Source

Identifiers

PMID: 29896741
DOI: 10.3760/cma.j.issn.1003-9406.2018.03.021

Genes

CLCN1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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