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

Authors

  • Robert W. Taylor PhD,

    1. Department of Neurology, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
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  • Rajinder Singh-Kler PhD,

    1. Department of Neurology, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
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  • Christine M. Hayes BSc,

    1. Department of Neurology, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
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  • Philip E.M. Smith FRCP,

    1. Department of Neurology, University Hospital of Wales, Heath Park, Cardiff, United Kingdom
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  • Douglass M. Turnbull FRCP

    Corresponding author
    1. Department of Neurology, The Medical School, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom
    • Department of Neurology, The Medical School, Framlington Place, University of Newcastle upon Tyne, Newcastle upon Tyne, United Kingdom NE2 4HH
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Abstract

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 DNA mutation in the ND3 gene to be described.

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