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Article

Two novel MPZ mutations in Chinese CMT patients.

Journal of the peripheral nervous system : JPNS - 1 Sept 2013

Liu Lei, Li Xiaobo, Zi Xiaohong, Huang Shunxiang, Zhan Yajing, Jiang Mingming, Guo Jifeng, Xia Kun, Tang Beisha, Zhang Ruxu

Abstract excerpt

To investigate the myelin protein zero (MPZ) gene mutation and related clinical features in Chinese Charcot-Marie-Tooth (CMT) patients, we screened the coding sequence of MPZ in 70 unrelated CMT index patients after excluding the PMP22 duplication, Cx32 and MFN2 mutations. We found four different missense mutations: c.194C>T, c.242A>T, c.371C>T, and c.419C>G. The frequency of MPZ mutation was approximately 4.35%...

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Source

Identifiers

PMID: 24028194
DOI: 10.1111/jns5.12040

Genes

MPZ
MFN2
PMP22

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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