Investigation of the mitochondrial genome in patients with atypical motor neuron disease

Catherine Phoenix, Geoffrey A. Taylor, Judith Hartley, Hannah Nixon, Paul G. Ince, Pamela J. Shaw, Douglass M. Turnbull, Robert W. Taylor

Research output: Contribution to journalArticle

Abstract

The molecular aetiology of many patients with motor neuron disease (MND) remains unknown. Recent evidence of mitochondrial dysfunction, in particular the finding of histochemical abnormalities and pathogenic mitochondrial DNA (mtDNA) mutations, has prompted us to investigate further the role of mtDNA abnormalities in a cohort of thirteen patients with atypical MND presentations by whole mitochondrial genome sequencing. No pathogenic mutations were detected suggesting that inherited mtDNA mutations are not a common cause of atypical MND presentations.
Original languageEnglish
Pages (from-to)482-487
Number of pages7
JournalJournal of Neurology
Volume254
Issue number4
Early online date31 Mar 2007
DOIs
Publication statusPublished - 1 Apr 2007

Keywords

  • motor neuron disease
  • mitochondrial DNA
  • mutation
  • pathogenicity
  • genome sequencing

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    Phoenix, C., Taylor, G. A., Hartley, J., Nixon, H., Ince, P. G., Shaw, P. J., Turnbull, D. M., & Taylor, R. W. (2007). Investigation of the mitochondrial genome in patients with atypical motor neuron disease. Journal of Neurology, 254(4), 482-487. https://doi.org/10.1007/s00415-006-0399-1