Article
A novel homozygous MPV17 mutation in two families with axonal sensorimotor polyneuropathy.
BMC neurology - 5 Oct 2015
Choi Yu-Ri, Hong Young Bin, Jung Sung-Chul, Lee Ja Hyun, Kim Ye Jin, Park Hyung Jun, Lee Jinho, Koo Heasoo, Lee Ji-Su, Jwa Dong Hwan, Jung Namhee, Woo So-Youn, Kim Sang-Beom, Chung Ki Wha, Choi Byung-Ok
Abstract excerpt
BACKGROUND: 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 liver failure with seldom development of progressive neurologic involvement. METHODS: Whole exome sequencing (WES) was performed to isolate the causative gene of two unrelated neuropathy...
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