Late-onset mitochondrial disease in a patient with MELAS and mitochondrial DNA T14487C mutation  

作　　者：Xue-Bi Xu Kun-Qian Ji Jing-Wei Lyu Shu Zhang Xiao-Qing Lyu Chang Liu Wei Li Chuan-Zhu Yan Yu-Ying Zhao 

机构地区：[1]Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan, Shandong 250000, China [2]Brain Science Research Institute, Shandong University, Jinan, Shandong 250000, China [3]Mitochondrial Medicine Laboratory, Qilu Hospital, Shandong University, Qingdao, Shandong 266035, China

出　　处：《Chinese Medical Journal》2019年第6期716-718,共3页中华医学杂志（英文版）

基　　金：grants from the National Natural Science Foundation of China (No. 81671235 and No. 81701237);People's Benefit Project of Science and Technology in Qingdao (No. 16-6-2-1-nsh) and the Taishan Scholars Program of Shandong Province.

摘　　要：To the Editor: Mitochondrial encephalomyopathy with lactate acidosis and stroke-like episodes (MELAS) is one of the most common multisystem mitochondrial disorders with broad clinical manifestations.[1] It is usually caused by point mutations in the mitochondrial MT-TL1 gene, which accounts for approximately 80% of mutations in individuals with MELAS syndrome.[2] Pathogenic mitochondrial DNA (mtDNA) mutations were first described in 1980[3] and m.l4487T>C is a known pathogenic mtDNA mutation,[4] which has been reported in patients with Leigh syndrome, optic neuropathy, ptosis, dystonia, and encephalomyopathy. We herein report a patient with late-onset MELAS syndrome with the m.l4487T>C mutation for the first time.

关 键 词：Editor Mitochondrial ENCEPHALOMYOPATHY LACTATE ACIDOSIS 

分 类 号：R[医药卫生]