Mendell J R
Department of Neurology, Ohio State University School of Medicine, Columbus 43210, USA.
Semin Neurol. 1998;18(1):41-7. doi: 10.1055/s-2008-1040860.
As a group, the Charcot-Marie-Tooth (CMT) neuropathies represent the most common inherited peripheral nerve diseases. Estimates of the prevalence rate are 1 in 2500 but the exact numbers are difficult to ascertain because of the heterogeneity of the syndrome(s). The classification of CMT has undergone change coincident with chromosomal localization and gene identification. Table 1 summarizes the diseases and genetic defects discussed in this review.
作为一个群体,夏科-马里-图斯(CMT)神经病变是最常见的遗传性周围神经疾病。患病率估计为1/2500,但由于该综合征的异质性,确切数字难以确定。CMT的分类随着染色体定位和基因识别而发生了变化。表1总结了本综述中讨论的疾病和基因缺陷。