Advance in Clinical and Molecular Genetics Study of Charcot-Marie-Tooth Disease 1X Type (review) / 中国康复理论与实践

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.