Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres.

@article{Moslemi1998ThresholdEO,
  title={Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres.},
  author={A R Moslemi and M{\'a}r H. Tulinius and Elisabeth Holme and Anders Oldfors},
  journal={Neuromuscular disorders : NMD},
  year={1998},
  volume={8 5},
  pages={345-9}
}
We investigated the distribution in skeletal muscle of mitochondrial DNA (mtDNA) with the tRNA(Lys) A8344G mutation, which is associated with myoclonus epilepsy and ragged red fibres (MERRF) syndrome. Isolated muscle fibre segments (n = 144) from six individuals of two different families carrying the mutation were studied. Two of these individuals were affected by MERRF while four had no or minor clinical symptoms. In one individual with a low overall level of mutated mtDNA (mean 18%) the… CONTINUE READING

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