Mutation analysis of MPZ gene and clinical features in Chinese patients with Charcot-Marie-Tooth disease

摘要：

　　Background and objective Charcot-Marie-Tooth disease (CMT), also called hereditary motor and sensory neuropathy (HMSN), is the most common hereditary peripheral neuropathy, with an estimated prevalence of one in 2500.CMT is a group of singe gene disease with highly clinical and genetic heterogeneity.At present, 39 loci and 28 causative genes have been identified.Myelin protein zero (MPZ) gene mutation accounts for about 5% CMT patients, with CMT1, CMT2 or intermediate CMT phenotype.To investigate the mutation features and clinical manifestations evoking CMT1B and CMT2I/J due to MPZ mutations, we screened the coding sequence of MPZ in 70 unrelated CMT probands after exclusion of the PMP22 duplication, GJB1 and MFN2 missense mutations.

关键词： Charcot-Marie-Tooth disease clinical feature MPZ CMT1B CMT2I/J

作者: Zhang RX Liu L Tang BS

作者单位: Department of Neurology, the Third Xiangya Hospital, Central South University, Changsha 410013 National Key Lab of Medical Genetics, Central South University, Changsha 410078;Department of Neurol

会议类型: 国内会议

会议名称: 首届中国遗传与疾病论坛——常见与罕见神经遗传病规范化诊治学术交流会

会议地点: 广州

会议语种:英文

页码: 252-253

在线出版日期: 2013-06-21（万方平台首次上网日期，不代表论文的发表时间）