Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?

  title={Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?},
  author={Tuan H Vu and K. Tanji and Stephen A Holve and Eduardo Bonilla and Ronald J. Sokol and R. David Snyder and Stefano Fiore and Gail Deutsch and Salvatore Dimauro and Darryl C De Vivo},
  volume={34 1},
Navajo neurohepatopathy (NNH) is an autosomal recessive disease of full-blooded Navajo children living in the Navajo Reservation of southwestern United States. Clinical features of NNH include peripheral and central nervous system involvement, acral mutilation, corneal scarring or ulceration, liver failure, and metabolic and immunologic derangement. The cause of NNH is unknown, but the clinical features of NNH are similar to those of patients with mitochondrial DNA (mtDNA) depletion. Therefore… CONTINUE READING
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Deficient MDR3 expression in liver from patients with Navajo neuropathy: a human homolog of mdr2-/- mice [Abstract

  • X Zhang, IM Arias
  • 1997

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