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  • 标题:MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome
  • 作者:Joonil Kim ; Eungu Kang ; Yoonmyung Kim
  • 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
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