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Article

[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 obt...

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Source

Identifiers

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

Genes

GJB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-24327141-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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