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A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.

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Title: A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
Authors: Lake NJ; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Formosa LE; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton Campus, Melbourne, Victoria, Australia., Stroud DA; Department of Biochemistry and Molecular Biology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia., Ryan MT; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton Campus, Melbourne, Victoria, Australia., Calvo SE; Department of Molecular Biology, Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, Massachusetts.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts.; Metabolism Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Mootha VK; Department of Molecular Biology, Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, Massachusetts.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts.; Metabolism Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts., Morar B; Centre for Clinical Research in Neuropsychiatry, School of Psychiatry and Clinical Neurosciences, University of Western Australia, Perth, Western Australia, Australia.; Mitochondrial Medicine and Biology, Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia., Procopis PG; Department of Neurology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia., Christodoulou J; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Mitochondrial Laboratory, Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia., Compton AG; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia., Thorburn DR; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Mitochondrial Laboratory, Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.
Source: Human mutation [Hum Mutat] 2019 Jul; Vol. 40 (7), pp. 893-898. Date of Electronic Publication: 2019 Apr 13.
Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A patient with homozygous nonsense variants in two Leigh syndrome disease genes: Distinguishing a dual diagnosis from a hypomorphic protein-truncating variant.
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  Data: <searchLink fieldCode="AU" term="%22Lake+NJ%22">Lake NJ</searchLink>; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Formosa+LE%22">Formosa LE</searchLink>; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton Campus, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Stroud+DA%22">Stroud DA</searchLink>; Department of Biochemistry and Molecular Biology, The Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Ryan+MT%22">Ryan MT</searchLink>; Department of Biochemistry and Molecular Biology, Monash Biomedicine Discovery Institute, Monash University, Clayton Campus, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Calvo+SE%22">Calvo SE</searchLink>; Department of Molecular Biology, Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, Massachusetts.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts.; Metabolism Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Mootha+VK%22">Mootha VK</searchLink>; Department of Molecular Biology, Howard Hughes Medical Institute, Massachusetts General Hospital, Boston, Massachusetts.; Department of Systems Biology, Harvard Medical School, Boston, Massachusetts.; Metabolism Program, Broad Institute of MIT and Harvard, Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Morar+B%22">Morar B</searchLink>; Centre for Clinical Research in Neuropsychiatry, School of Psychiatry and Clinical Neurosciences, University of Western Australia, Perth, Western Australia, Australia.; Mitochondrial Medicine and Biology, Harry Perkins Institute of Medical Research and Centre for Medical Research, University of Western Australia, Nedlands, Western Australia, Australia.<br /><searchLink fieldCode="AU" term="%22Procopis+PG%22">Procopis PG</searchLink>; Department of Neurology, Children's Hospital at Westmead, Sydney, New South Wales, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.<br /><searchLink fieldCode="AU" term="%22Christodoulou+J%22">Christodoulou J</searchLink>; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Discipline of Child and Adolescent Health, Sydney Medical School, University of Sydney, Sydney, New South Wales, Australia.; Mitochondrial Laboratory, Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Compton+AG%22">Compton AG</searchLink>; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.<br /><searchLink fieldCode="AU" term="%22Thorburn+DR%22">Thorburn DR</searchLink>; Brain and Mitochondrial Research, Murdoch Children's Research Institute, Royal Children's Hospital, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Mitochondrial Laboratory, Victorian Clinical Genetics Services, Royal Children's Hospital, Melbourne, Victoria, Australia.
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  Data: <searchLink fieldCode="JN" term="%229215429%22">Human mutation</searchLink> [Hum Mutat] 2019 Jul; Vol. 40 (7), pp. 893-898. <i>Date of Electronic Publication: </i>2019 Apr 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Wiley-Liss%22">Wiley-Liss </searchLink><i>Country of Publication: </i>United States <i>NLM ID: </i>9215429 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1098-1004 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2210597794%22">10597794 </searchLink><i>NLM ISO Abbreviation: </i>Hum Mutat <i>Subsets: </i>MEDLINE
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              Text: 2019 Jul
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