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 journalArticlepeer-review

    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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