Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction

• Michael Nafisinia,

  Affiliations Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia, Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

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• Lisa G. Riley,

  Affiliations Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia, Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

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• Wendy A. Gold,

  Affiliations Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia, Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia

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• Kaustuv Bhattacharya,

  Affiliations Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia, Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia, Genetic Metabolic Disorders Service, Western Sydney Genetics Program, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia

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• Carolyn R. Broderick,

  Affiliations Children’s Hospital Institute of Sports Medicine, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia, School of Medical Sciences, UNSW, Sydney, New South Wales, Australia

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• David R. Thorburn,

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

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• Cas Simons ,

  ¶‡ These authors are co-senior authors on this work.

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

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• John Christodoulou

  * E-mail: john.christodoulou@mcri.edu.au

  ¶‡ These authors are co-senior authors on this work.

  Affiliations Genetic Metabolic Disorders Research Unit, Western Sydney Genetics Program, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia, Discipline of Child & Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia, Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia, Genetic Metabolic Disorders Service, Western Sydney Genetics Program, The Children’s Hospital at Westmead, Sydney, New South Wales, Australia, Murdoch Childrens Research Institute and Victorian Clinical Genetics Services, Royal Children’s Hospital, and Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia

  http://orcid.org/0000-0002-8431-0641

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