腓骨肌萎缩症(charcot marie tooth disease,CMT)是一组高发病率的周围神经系统的单基因遗传病,具有临床和遗传异质性。可分为CMT1型,CMT2型,CMTX型和CMT4型。近些年随着分子遗传学和分子生物学的快速发展,已经发现了很多CMT的相关致病基因。主要包括外周髓鞘蛋白22基因、髓鞘蛋白零蛋白基因、间隙连接蛋白-32基因、驱动蛋白1B基因、Ras相关蛋白7基因、小分子热休克蛋白27基因等。本文就CMT相关致病基因研究现状作一综述。 Charcot’s marie tooth disease (CMT) is a group of high incidence of single-gene disease of the peripheral nervous system, with clinical and genetic heterogeneity. Can be divided into CMT1 type, CMT2 type, CMTX type and CMT4 type. In recent years, with the rapid development of molecular genetics and molecular biology, many CMT related pathogenic genes have been discovered. Mainly including the peripheral myelin protein 22 gene, myelin protein splicing gene, gap junction protein-32 gene, kinesin 1B gene, Ras-related protein 7 gene, small molecule heat shock protein 27 genes. This article reviews the status quo of CMT related pathogenic genes.