Diseases caused by defects of mitochondrial carriers: a review.

@article{Palmieri2008DiseasesCB,
  title={Diseases caused by defects of mitochondrial carriers: a review.},
  author={Ferdinando Palmieri},
  journal={Biochimica et biophysica acta},
  year={2008},
  volume={1777 7-8},
  pages={564-78}
}
A strikingly large number of mitochondrial DNA (mtDNA) mutations have been found to be the cause of respiratory chain and oxidative phosphorylation defects. These mitochondrial disorders were the first to be investigated after the small mtDNA had been sequenced in the 80s. Only recently numerous diseases resulting from mutations in nuclear genes encoding… CONTINUE READING