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[Clinical and genetic analysis of a Chinese family affected with X-linked Charcot-Marie-Tooth disease].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Dec 2013

Feng Yapei, Li Lin, Li Xiao, Wang Guilong, Li Jiangxia, Liu Qiji

Abstract excerpt

OBJECTIVE: To study the clinical manifestations and identify causative mutations for a Chinese family affected with X-linked Charcot-Marie-Tooth disease. METHODS: Clinical, electrophysiological and pathological features of the family were carefully analyzed by neurologists. Blood samples were obtained from the proband and other family members. Genomic DNA was extracted. Mutation analysis of GJB1 gene was analyzed...

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Source

Identifiers

PMID: 24327141
DOI: 10.3760/cma.j.issn.1003-9406.2013.06.005

Genes

GJB1

Variants

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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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