MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome

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...

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Bibliographische Detailangaben
Veröffentlicht in:Mol Genet Metab Rep
Hauptverfasser: Kim, Joonil, Kang, Eungu, Kim, Yoonmyung, Kim, Jae-Min, Lee, Beom Hee, Murayama, Kei, Kim, Gu-Hwan, Choi, In Hee, Kim, Kyung Mo, Yoo, Han-Wook
Format: Artigo
Sprache:Inglês
Veröffentlicht: Elsevier 2016
Schlagworte:
Short Communication
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4976613/
https://ncbi.nlm.nih.gov/pubmed/27536553
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2016.06.006
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