A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.

@article{Tiranti1998ANM,
  title={A novel mutation in the mitochondrial tRNA(Val) gene associated with a complex neurological presentation.},
  author={Valeria Tiranti and Leonardo D'agruma and Davide Pareyson and Marina Mora and Franco Carrara and Leopoldo Zelante and Paolo Gasparini and Massimo Zeviani},
  journal={Annals of neurology},
  year={1998},
  volume={43 1},
  pages={98-101}
}
We describe a patient who presented with progressive ataxia, seizures, mental deterioration, mild myopathy, and hearing loss. A novel heteroplasmic G-to-A transition was found, affecting the acceptor stem of the mitochondrial (mt) tRNA(Val) gene. Mutant mtDNA was 67% of total mtDNA in the muscle of the proband and was also present at low levels in the muscle of his healthy mother. It was absent in all of the numerous control DNA samples that were tested. Analysis of single muscle fibers… CONTINUE READING

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