文章基本信息

标题：MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome
作者：Joonil Kim ; Eungu Kang ; Yoonmyung Kim 等
期刊名称：Molecular Genetics and Metabolism Reports
印刷版ISSN：2214-4269
出版年度：2016
卷号：8
页码：74-76
DOI：10.1016/j.ymgmr.2016.06.006
出版社：Elsevier B.V.
摘要：
MPV17 -related hepatocerebral mitochondrial DNA depletion syndrome (MDS) is a very rare condition, and only a few cases have been reported in East Asian countries. Here, we describe four Korean children affected by hepatocerebral MDS. The DGUOK , POLG1 , and MPV17 genes were analyzed, and all patients had MPV17 mutations.
关键词：Hepatocerebral mitochondrial DNA depletion syndrome ; MPV17 ; Navajo neurohepatopathy