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Article

The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PloS one - 1 Jan 2011

Lin Kon-Ping, Soong Bing-Wen, Yang Chih-Chao, Huang Li-Wen, Chang Ming-Hong, Lee I-Hui, Antonellis Anthony, Antonellis Antony, Lee Yi-Chung

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease type 2 (CMT2) is a clinically and genetically heterogeneous group of inherited axonal neuropathies. The aim of this study was to extensively investigate the mutational spectrum of CMT2 in a cohort of patients of Han Chinese. METHODOLOGY AND PRINCIPAL FINDINGS: Genomic DNA from 36 unrelated Taiwanese CMT2 patients of Han Chinese descent was screened for mutations in the...

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Identifiers

PMID: 22206013
DOI: 10.1371/journal.pone.0029393
PMCID: PMC3242783

Genes

MFN2
HSPB1
NEFL
GDAP1
DNM2
HSPB8
MPZ
TRPV4

Variants

Provenance

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