Molecular Investigations on tRNAs Involved in Human Mitochondrial Disorders

@article{Florentz2002MolecularIO,
  title={Molecular Investigations on tRNAs Involved in Human Mitochondrial Disorders},
  author={Catherine Florentz},
  journal={Bioscience Reports},
  year={2002},
  volume={22},
  pages={81-98}
}
  • C. Florentz
  • Published 1 February 2002
  • Biology
  • Bioscience Reports
Over the last decade, human neurodegenerative disorders which correlate with point mutations in mitochondrial tRNA genes became more and more numerous. Both the number of mutations (more than 70) and the variety of phenotypes (cardiopathies, myopathies, encephalopathies as well as diabetes, deafness or others) render the understanding of the genotype/phenotype relationships very complex. Here we first summarize the efforts undertaken to decipher the initial impact of various mutations on the… 

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