中文摘要：

由基因突变引起的外周神经病统称为Charcot-Marie-Tooth（CMT）病,它是最常见的遗传性神经系统疾病之一,发病率为1/2500。目前已知有超过53个染色体位点和35个特定基因与CMT有关,但是大部分CMT都是由周围髓鞘蛋白22（PMP22）基因变异所引起的。该文重点对PMP22的生物学及相关疾病的病理生理学进行综述。

英文摘要：

Mutations in human genes may cause peripheral neuropathies,which are collectively called as Charcot-Marie-Tooth disease（CMT） . CMT affects one in 2 500 people,and is one of the most common inherited neurological disorders. There are now over 53 chromosomal loci and 35 specific genes that are linked to different types of CMT. Peripheral myelin protein-22（PMP22） was discovered to be causal gene for the largest group of patients with CMT. The biology of PMP22 and the pathophysiology of its related diseases,were reviewed here.