Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.

@article{Taylor2001ProgressiveMD,
  title={Progressive mitochondrial disease resulting from a novel missense mutation in the mitochondrial DNA ND3 gene.},
  author={R. W. Taylor and R. Singh-Kler and Christine M. Hayes and Philip E. L. Smith and Douglass Matthew Turnbull},
  journal={Annals of neurology},
  year={2001},
  volume={50 1},
  pages={104-7}
}
We describe a 42-year-old man who presented with a progressive history of epilepsy, stroke-like episodes, bilateral optic atrophy, and cognitive decline. Investigation of his muscle biopsy revealed a specific defect in complex I activity. Subsequent analysis of the mitochondrial genome identified a novel heteroplasmic T10191C mutation in the ND3 gene. The mutation was present at lower levels in blood from the patient and unaffected maternal relatives and is the first pathogenic mitochondrial… CONTINUE READING

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