Mutations in MPV17 cause the autosomal recessive disorder mitochondrial DNA depletion syndrome 6 (MTDPS6), also called Navajo neurohepatopathy (NNH). Clinical features of MTDPS6 is infantile onset of progressive ...
Authors:
Yu-Ri Choi, Young Bin Hong, Sung-Chul Jung, Ja Hyun Lee, Ye Jin Kim, Hyung Jun Park, Jinho Lee, Heasoo Koo, Ji-Su Lee, Dong Hwan Jwa, Namhee Jung, So-Youn Woo, Sang-Beom Kim, Ki Wha Chung and Byung-Ok Choi
Citation:
BMC Neurology
2015
15:179
Content type: Research article
Published on: 5 October 2015