Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.

@article{Tulinius2003LeighSW,
  title={Leigh syndrome with cytochrome-c oxidase deficiency and a single T insertion nt 5537 in the mitochondrial tRNATrp gene.},
  author={M{\'a}r H. Tulinius and A R Moslemi and Niklas Dar{\'i}n and B M Westerberg and L-M Wiklund and Elisabeth Holme and Anders Oldfors},
  journal={Neuropediatrics},
  year={2003},
  volume={34 2},
  pages={
          87-91
        }
}
We report a nine-year-old boy with the features of Leigh syndrome (LS) and a severe cytochrome-c oxidase (COX) deficiency with a single thymidine insertion at nucleotide position 5537 (T 5537i) in the tRNA Trp gene of mitochondrial DNA. During infancy the boy was irritable and hypotonus was noticed. Early motor development was delayed, although mental development seemed normal until eight months of age. Early neurological signs were nystagmus, hypertonus and optic atrophy. Severe seizures and… CONTINUE READING

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