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]Sichuan Univ, West China Hosp, Dept Neurol, 37 Guo Xue Xiang, Chengdu 610041, Sichuan, Peoples R China
共同第一作者：
通讯作者：
通讯机构：[1]Sichuan Univ, West China Hosp, Dept Neurol, 37 Guo Xue Xiang, Chengdu 610041, Sichuan, Peoples R China
推荐引用方式(GB/T 7714)：
Huang Hongyan,Yang Xinglong,Liu Ling,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：
Huang, Hongyan,Yang, Xinglong,Liu, Ling&Xu, Yanming.(2019).Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations.ANNALS OF INDIAN ACADEMY OF NEUROLOGY,22,(3)
MLA：
Huang, Hongyan,et al."Leukoencephalopathy in Mitochondrial Neurogastrointestinal Encephalomyopathy-Like Syndrome with Polymerase-Gamma Mutations".ANNALS OF INDIAN ACADEMY OF NEUROLOGY 22..3(2019):325-+
