Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis

@article{Blakely2006SporadicII,
  title={Sporadic Intragenic Inversion of the Mitochondrial DNA MTND1 Gene Causing Fatal Infantile Lactic Acidosis},
  author={Emma L. Blakely and Katherine J Rennie and Linda I. Jones and Mattias Elstner and Zofia M A Chrzanowska-Lightowlers and Christopher J. Branford White and Julian P. H. Shield and Daniela T. Pilz and Douglass Matthew Turnbull and Joanna Poulton and Robert William Taylor},
  journal={Pediatric Research},
  year={2006},
  volume={59},
  pages={440-444}
}
Mutations of mitochondrial DNA (mtDNA) are an important cause of genetic disease, yet rarely present in the neonatal period. Here we report the clinical, biochemical, and molecular genetic findings of an infant who died at the age of 1 mo with marked biventricular hypertrophy, aortic coarctation, and severe lactic acidosis due to a previously described but… CONTINUE READING