MPV17 mutations in patients with hepatocerebral mitochondrial DNA depletion syndrome.

Research paper by Joonil J Kim, Eungu E Kang, Yoonmyung Y Kim, Jae-Min JM Kim, Beom Hee BH Lee, Kei K Murayama, Gu-Hwan GH Kim, In Hee IH Choi, Kyung Mo KM Kim, Han-Wook HW Yoo

Indexed on: 19 Aug '16Published on: 19 Aug '16Published in: Molecular Genetics and Metabolism Reports


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.