A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease

• Sanjeev Rajakulendran,

  Affiliation UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery and the MRC Centre for Neuromuscular Diseases, Queen Square, London WC1N 3BG, United Kingdom

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• Robert D. S. Pitceathly,

  Affiliation UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery, Queen Square, London WC1N 3BG, United Kingdom and Department of Basic and Clinical Neuroscience, Institute of Psychiatry, Psychology and Neuroscience, King’s College London SE5 8AF, United Kingdom

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• Jan-Willem Taanman,

  Affiliation Department of Clinical Neurosciences, UCL Institute of Neurology, London NW3 2PF, United Kingdom

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• Harry Costello,

  Affiliation Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, United Kingdom

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• Mary G. Sweeney,

  Affiliation Department of Neurogenetics, UCL Institute of Neurology and National Hospital for Neurology, Queen Square, London WC1N 3BG, United Kingdom

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• Cathy E. Woodward,

  Affiliation Department of Neurogenetics, UCL Institute of Neurology and National Hospital for Neurology, Queen Square, London WC1N 3BG, United Kingdom

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• Zane Jaunmuktane,

  Affiliation Division of Neuropathology, UCL Institute of Neurology and National Hospital for Neurology, Queen Square, London WC1N 3BG, United Kingdom

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• Janice L. Holton,

  Affiliation Division of Neuropathology, UCL Institute of Neurology and National Hospital for Neurology, Queen Square, London WC1N 3BG, United Kingdom

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• Thomas S. Jacques,

  Affiliation Developmental Biology and Cancer Programme, UCL Institute of Child Health and Department of Histopathology, Great Ormond Street Hospital for Children Foundation Trust, London WC1N 1EH, United Kingdom

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• Brian N. Harding,

  Affiliation Division of Neuropathology, The Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America

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• Carl Fratter,

  Affiliation Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Trust, Churchill Hospital, Oxford OX3 7LE, United Kingdom

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• Michael G. Hanna,

  Affiliation UCL Institute of Neurology and National Hospital for Neurology and Neurosurgery and the MRC Centre for Neuromuscular Diseases, Queen Square, London WC1N 3BG, United Kingdom

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• Shamima Rahman

  * E-mail: shamima.rahman@ucl.ac.uk

  Affiliations Mitochondrial Research Group, Genetics and Genomic Medicine, UCL Institute of Child Health, London WC1N 1EH, United Kingdom, Metabolic Unit, Great Ormond Street Hospital, London WC1N 3JH, United Kingdom

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