Journal
MOLECULAR GENETICS AND METABOLISM REPORTS
Volume 8, Issue -, Pages 74-76Publisher
ELSEVIER SCIENCE BV
DOI: 10.1016/j.ymgmr.2016.06.006
Keywords
Hepatocerebral mitochondrial DNA depletion syndrome; MPV17; Navajo neurohepatopathy
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Funding
- National Research Foundation of Korea
- Ministry of Education, Science, and Technology [NRF-2015R1D1A1A01058192]
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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. (C) 2016 Published by Elsevier Inc.
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