机构：[1]Department of Neurology, West China Hospital, Sichuan University, Sichuan Province, PR China四川大学华西医院[2]Department of Geriatric Neurology, The First Affiliated Hospital of Kunming Medical University, Kunming, Yunnan, PR China昆明医科大学附属第一医院
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome, caused by mutations in the thymidine phosphorylase gene, manifests as a multisystemic disorder characterized by severe gastrointestinal dysmotility, cachexia, ptosis and ophthalmoparesis, peripheral neuropathy, and leukoencephalopathy. These clinical manifestations, with the exception of leukoencephalopathy, are mimicked by MNGIE-like syndrome, linked to polymerase-gamma (POLG) gene. Here, we report a 49-year-old Chinese man with MNGIE-like syndrome involved leukoencephalopathy and was associated with novel POLG mutations. This case expands the clinical spectrum of MNGIE-like syndrome.
第一作者机构：[1]Department of Neurology, West China Hospital, Sichuan University, Sichuan Province, PR China
通讯作者：
通讯机构：[1]Department of Neurology, West China Hospital, Sichuan University, Sichuan Province, PR China[*1]Department of Neurology, West China Hospital, Sichuan University, 37 Guo Xue Xiang, Chengdu, Sichuan Province, 610041 PR China
推荐引用方式(GB/T 7714)：
Hongyan Huang,Xinglong Yang,Ling Liu,et al.Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations[J].ANNALS OF INDIAN ACADEMY OF NEUROLOGY.2019,22(3):325-+.doi:10.4103/aian.AIAN_34_18.
APA：
Hongyan Huang,Xinglong Yang,Ling Liu&Yanming Xu.(2019).Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations.ANNALS OF INDIAN ACADEMY OF NEUROLOGY,22,(3)
MLA：
Hongyan Huang,et al."Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations".ANNALS OF INDIAN ACADEMY OF NEUROLOGY 22..3(2019):325-+
