论文部分内容阅读
Charcot- Marie- Tooth(CMT)病是一组具有遗传异质性的末稍神经系统遗传病 ,近来人们发现 X连锁显性 Char-cot- Marie- Tooth(CMTX1)与连接蛋白 32 (Connexin32 ,Cx32 )基因突变有关。本文综述了 Cx32的拓扑学结构、Cx32基因突变的方式和 CMTX1发病机理的研究现状
Charcot-Marie-Tooth (CMT) is a group of hereditary heterogeneity of the peripheral nervous system genetic disease, recently it was found X-linked dominant Char-cot-Marie-Tooth (CMTX1) and connexin32 (Connexin32, Cx32 ) Gene mutation related. This review summarizes the topological structure of Cx32, the ways of Cx32 gene mutation and the current research on the pathogenesis of CMTX1