Article
Navajo neurohepatopathy is caused by a mutation in the MPV17 gene.
American journal of human genetics - 1 Sept 2006
Karadimas Charalampos L, Vu Tuan H, Holve Stephen A, Chronopoulou Penelope, Quinzii Catarina, Johnsen Stanley D, Kurth Janice, Eggers Elizabeth, Palenzuela Lluis, Tanji Kurenai, Bonilla Eduardo, De Vivo Darryl C, DiMauro Salvatore, Hirano Michio
Abstract excerpt
Navajo neurohepatopathy (NNH) is an autosomal recessive disease that is prevalent among Navajo children in the southwestern United States. The major clinical features are hepatopathy, peripheral neuropathy, corneal anesthesia and scarring, acral mutilation, cerebral leukoencephalopathy, failure t...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.