TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

@article{Powell2015TRMT5MC,
  title={TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies},
  author={C. Powell and R. Kopajtich and Aaron R D'Souza and J. Rorbach and Laura S. Kremer and R. Husain and C. Dallabona and C. Donnini and C. Alston and H. Griffin and A. Pyle and P. Chinnery and T. Strom and T. Meitinger and R. Rodenburg and G. Schottmann and M. Schuelke and N. Romain and R. Haller and I. Ferrero and T. Haack and Robert W Taylor and H. Prokisch and M. Minczuk},
  journal={American Journal of Human Genetics},
  year={2015},
  volume={97},
  pages={319 - 328}
}
Deficiencies in respiratory-chain complexes lead to a variety of clinical phenotypes resulting from inadequate energy production by the mitochondrial oxidative phosphorylation system. Defective expression of mtDNA-encoded genes, caused by mutations in either the mitochondrial or nuclear genome, represents a rapidly growing group of human disorders. By whole-exome sequencing, we identified two unrelated individuals carrying compound heterozygous variants in TRMT5 (tRNA methyltransferase 5… Expand
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