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.

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 were collected.Gene mutations were analyzed using multiplex ligation-dependent probe amplification (MLPA) and Sanger gene sequencing.

We found 31(29.5%) PMP22 duplication pedigrees, 8(7.6%) GJB1 mutation pedigrees, 4(3.8%) MFN2 mutation pedigrees, 4(3.8%) HSPB1 mutation pedigrees, 3(2.9%) MPZ mutation pedigrees and 1(1.0%) PMP22 mutation pedigree.In Chinese Han population, the proportion of PMP22 duplication was relatively lower than that in western countries and manifested with classical clinical characteristics of CMT.Subjects with axonal CMT often presented with isolated lower extremity injury and with central nervous system involvement. Hereditary motor neuropathy might be underestimated in clinical setting and should be differentiated from motor neuron disease.

The gene frequency distribution in patients with CMT in Chinese Han population is different from that in patients from western countries.We should establish our own epidemiological data of CMT in Chinese Han population.

Charcot-Marie-Tooth disease; Gene diagnosis; Phenotype