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Article

Mutation frequency for Charcot-Marie-Tooth disease type 1 in the Chinese population is similar to that in the global ethnic patients.

Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2006

Song Shujuan, Zhang Yuanzhi, Chen Biao, Zhang Yuanjin, Wang Manjie, Wang Yueying, Yan Ming, Zou Junhua, Huang Yu, Zhong Nanbert

Abstract excerpt

PURPOSE: To investigate the genetic loci/mutations among the Chinese Charcot-Marie-Tooth disease type 1 (CMT1), which accounts for approximately 70% of Charcot-Marie-Tooth; and to study the genetic heterogeneity and mutation frequency. METHODS: CMT1A duplication and mutations at loci of MPZ, Cx32/GJB1, EGR2, and LITAF/SIMPLE were analyzed among 32 clinically diagnosed CMT1 patients of Chinese ancestry. RESULTS:...

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Source

Identifiers

PMID: 16912585
DOI: 10.1097/01.gim.0000232481.96287.89

Genes

MPZ
EGR2
LITAF
GJB1
PMP22

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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