Mitofusin 2 Gene Mutations Causing Early-Onset CMT2A with Different Progressive Course

• 作 者: HeLv;LuWang;WurongLi;XiaohuiQiao;ZhaoxiaWang;YunYuan;
• 机 构: Department of Neurology, Peking University First Hospital, Beijing, 100034, China
• 出 处: 第二届亚洲神经病理会议暨第十一届全国神经病理学术会议
• 发表日期: 2011年期

　　Type 2A2 of Charcot-Marie-Tooth disease (CMT2A2), caused by mitofusin 2 (MFN2) genes, has been clinically classified into two types: the severe early onset type and mild benign type.Here we reported 3 early onset patients with different progressive course.The 3 patients presented mutations R94W, R364W and a novel W740R in the MFN2 gene.2 of them presented with progressive distal limb muscle weakness and wasting at the age of 5 and 6 years old respectively.The disease developed very slowly, with loss ambulant after 35 years old.Another patient presented the same symptoms after birth, however with assistant walking at age of 4.Sural biopsies revealed severe axonal neuropathy with mitochondrial aggregation in axons.We data confirmed the early-onset CMT2A2 can present different process in Chinese patients.