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Article

Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease.

Clinica chimica acta; international journal of clinical chemistry - 7 Dec 2015

Wang Rui, He Jin, Li Jin-Jing, Ni Wang, Wu Zhi-Ying, Chen Wan-Jin, Wang Yi

Abstract excerpt

The aim of this study was to determine the clinical features and frequencies of genetic subtypes in a series of patients with Charcot-Marie-Tooth (CMT) disease from Eastern China. Patients were divided into three subtypes, CMT1, CMT2 and hereditary neuropathy with liability to pressure palsy (HNPP), according to their electrophysiological manifestations. Multiplex ligation-dependent probe analysis (MLPA) was...

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Source

Identifiers

PMID: 26454100
DOI: 10.1016/j.cca.2015.10.007

Genes

PMP22
GJB1
MFN2
MPZ

Variants

Provenance

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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