MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (MPV17-NNH) revisited

MPV17-related hepatocerebral mitochondrial DNA depletion syndrome (previously known as Navajo neurohepatopathy) was discovered in children in the Four Corner's region of New Mexico approximately 40 years ago. This disease is associated with a single missense mutation in exon 2 in the MPV17 gene...

Full description

Bibliographic Details
Main Authors: Clifford Qualls, Mario Kornfeld, Nancy Joste, Abdul-Mehdi Ali, Otto Appenzeller
Format: Article
Language:English
Published: Elsevier 2016-03-01
Series:eNeurologicalSci
Subjects:
Online Access:http://www.sciencedirect.com/science/article/pii/S2405650216000071