《中国康复理论与实践》

《中国康复理论与实践》 ›› 2009, Vol. 15 ›› Issue (01): 5-7.

• 专题 • 上一篇    下一篇

Charcot-Marie-Tooth 病1X型的临床与分子遗传学研究进展

乔晓会 综述; 李越星 审校   

  1. 北京大学第一医院神经内科，北京市 100034
  • 收稿日期:2008-10-20 出版日期:2009-01-01 发布日期:2009-01-01
  • 通讯作者: 李越星

Advance in Clinical and Molecular Genetics Study of Charcot-Marie-Tooth Disease 1X Type (review)

QIAO Xiao-hui, LI Yue-xing   

  1. Department of Neurology, Peking University First Hospital, Beijing 100034, China
  • Received:2008-10-20 Published:2009-01-01 Online:2009-01-01

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摘要： 在Charcot-Marie-Tooth病(CMT)中，1X型发病率居于第2位，它由GJB1基因突变致Connexin32蛋白结构或功能异常，引起细胞间通道缺陷导致发病。文章综述了CMT1X的典型临床特征和分子遗传学进展，总结了CMT发病机制的研究。

关键词: Charcot-Marie-Tooth病1X型, 临床表现, 分子遗传学, 综述

Abstract: The prevalence of 1X type ranks the second among Charcot-Marie-Tooth disease (CMT). Mutations of GJB1 gene causes abnormality of Connexin32's structure and function, which leads to the defect of the intercellular passage, and at last Results in CMT1X. This article reviewed the typical clinical features and the advance of molecular genetics of CMT1X, and summarized the pathogenic researches.

Key words: Charcot-Marie-Tooth disease 1X type, clinical features, molecular genetics, review