Depletion of the other genome-mitochondrial DNA depletion syndromes in humans

@article{Elpeleg2002DepletionOT,
  title={Depletion of the other genome-mitochondrial DNA depletion syndromes in humans},
  author={Orly Elpeleg and Hanna Mandel and Ann Saada},
  journal={Journal of Molecular Medicine},
  year={2002},
  volume={80},
  pages={389-396}
}
We present the current knowledge on the genetic and phenotypic aspects of mitochondrial DNA depletion syndromes. The human mitochondrial DNA encodes 13 of the 82 structural proteins of the mitochondrial electron transport chain. The replication and maintenance of the mtDNA require a large number of nuclear encoded enzymes and balanced nucleotide pools. Mitochondrial nucleotide synthesis is of major importance because of the constant need for nucleotides for mtDNA maintenance even in quiescent… CONTINUE READING

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Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?

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