Biallelic pathogenic variants in COX11 are associated with an infantile-onset mitochondrial encephalopathy.

Autor: Rius R; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Bennett NK; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, California, USA., Bhattacharya K; Genetic Metabolic Disorders Service, The Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Riley LG; Specialty of Child & Adolescent Health, University of Sydney, Sydney, Australia.; Rare Diseases Functional Genomics, The Children's Hospital at Westmead, Sydney, New South Wales, Australia., Yüksel Z; Department of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany., Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Melbourne, Victoria, Australia., Compton AG; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia., Dale RC; Department of Paediatric Neurology and Clinical school, The Children's Hospital at Westmead, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia., Cowley MJ; Children's Cancer Institute & School of Women's and Children's Health, University of New South Wales, Sydney, New South Wales, Australia., Gayevskiy V; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia., Al Tala SM; Pediatric Directorate, Neonatal NICU, Armed Forces Hospital SR, Khamis Mushayt, Saudi Arabia., Almehery AA; Pediatric Directorate, Neonatal NICU, Armed Forces Hospital SR, Khamis Mushayt, Saudi Arabia., Ryan MT; Department of Human Genetics, Bioscientia Healthcare GmbH, Ingelheim, Germany., Thorburn DR; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia., Nakamura K; Gladstone Institute of Neurological Disease, Gladstone Institutes, San Francisco, California, USA.; Department of Neurology, University of California, San Francisco, California, USA.; Graduate Programs in Biomedical Sciences and Neuroscience, University of California, San Francisco, California, USA., Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Australia.; Discipline of Genetic Medicine, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.

Publikováno v: Human mutation [Hum Mutat] 2022 Dec; Vol. 43 (12), pp. 1970-1978. Date of Electronic Publication: 2022 Sep 07.