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Article

[The clinical presentation and gene mutation of probands in Chinese patients with Charcot-Marie-Tooth disease].

Zhonghua nei ke za zhi - 1 Jul 2015

Liu Xiaoxuan, Fan Dongsheng, Song Shujuan

Abstract excerpt

OBJECTIVE: To identify the gene mutation of Chinese Charcot-Marie-Tooth (CMT) pedigrees and investigate the association of gene mutation to the clinical manifestations and electrophysiology, and the underlying mechanisms. METHODS: A total of 105 pedigrees with CMT in our hospital were enrolled from January, 2007 to December 2013. The clinical features, CMT neuropathy score (CMTNS) and electrophysiological data...

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Source

Identifiers

PMID: 26359026

Genes

PMP22
GJB1
HSPB1
MFN2
MPZ

Provenance

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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