腓骨肌萎缩症(Charcot-Marie-Tooth,CMT)是神经系统遗传性周围神经病最常见的类型,患病率约为1/2500;其遗传方式主要是常染色体显性遗传、常染色体隐形、X连锁传及散发性;主要临床表现为进行性对称性远端肌无力和肌萎缩、腱反射减弱或消失、远端感觉减退。迄今为止,CMT的分子遗传学分型大致分为5型:CMT1、CMT2、CMT4、CMTX及DI-CMT,且每类又分诸多亚型。多篇文献报道,PMP22及Mfn2基因突变与家系中CMT并2型糖尿发病密切相关,而 Charcot-Marie-Tooth (CMT) is the most common type of hereditary peripheral neuropathy in the nervous system with a prevalence of about 1/2500. The genetic patterns are mainly autosomal dominant, autosomal recessive, X Chain transmission and sporadic; the main clinical manifestations of progressive symmetry of distal muscle weakness and muscle atrophy, tendon reflexes diminish or disappear, distal decline. So far, molecular genetic typing of CMT can be divided into 5 types: CMT1, CMT2, CMT4, CMTX and DI-CMT, and each subtype is subdivided into many subtypes. Many articles reported that PMP22 and Mfn2 gene mutations and family members of CMT and type 2 diabetes is closely related to the disease, and