Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

• David K. Miller ,

  Contributed equally to this work with: David K. Miller, Minal J. Menezes, Cas Simons

  Affiliation Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia

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• Minal J. Menezes ,

  Contributed equally to this work with: David K. Miller, Minal J. Menezes, Cas Simons

  Affiliations Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children’s Hospital at Westmead, Sydney, Westmead New South Wales, Australia, Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Camperdown New South Wales, Australia

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• Cas Simons ,

  Contributed equally to this work with: David K. Miller, Minal J. Menezes, Cas Simons

  Affiliation Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia

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• Lisa G. Riley,

  Affiliation Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children’s Hospital at Westmead, Sydney, Westmead New South Wales, Australia

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• Sandra T. Cooper,

  Affiliations Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Camperdown New South Wales, Australia, Institute for Neuroscience and Muscle Research, Children’s Hospital at Westmead, Sydney, New South Wales, Australia

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• Sean M. Grimmond,

  Affiliation Queensland Centre for Medical Genomics, Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia

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• David R. Thorburn,

  Affiliations Murdoch Childrens Research Institute and Victorian Clinical Genetics Services, Royal Children’s Hospital, Flemington Road, Parkville, Melbourne, Victoria, Australia, Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia

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• John Christodoulou ,

  * E-mail: john.christodoulou@health.nsw.gov.au (JC); r.taft@uq.edu.au (RJT)

  Affiliations Genetic Metabolic Disorders Research Unit, Kids Research Institute, Children’s Hospital at Westmead, Sydney, Westmead New South Wales, Australia, Discipline of Paediatrics and Child Health, Sydney Medical School, University of Sydney, Camperdown New South Wales, Australia, Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Camperdown, New South Wales, Australia

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• Ryan J. Taft

  * E-mail: john.christodoulou@health.nsw.gov.au (JC); r.taft@uq.edu.au (RJT)

  Current address: Illumina Inc., San Diego, California, United States of America

  Affiliations Institute for Molecular Bioscience, University of Queensland, St Lucia, Queensland, Australia, Departments of Integrative Systems Biology and Pediatrics, George Washington University School of Medicine, Washington, D.C., United States of America

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