Art

J-GLOBAL ID：201902213268086555   Reference number：19S0552819

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

Author (40)： Kopajtich, Robert (Institute of Human Genetics, Helmholtz Zentrum München) ,  Wieland, Thomas (Institute of Human Genetics, Helmholtz Zentrum München) ,  Wieland, Thomas (Institute of Human Genetics, Technische Universität München) ,  Schwarzmayr, Thomas (Institute of Human Genetics, Helmholtz Zentrum München) ,  Schwarzmayr, Thomas (Institute of Human Genetics, Technische Universität München) ,  Strom, Tim M. (Institute of Human Genetics, Helmholtz Zentrum München) ,  Strom, Tim M. (Institute of Human Genetics, Technische Universität München) ,  Meitinger, Thomas (Institute of Human Genetics, Helmholtz Zentrum München) ,  Meitinger, Thomas (Institute of Human Genetics, Technische Universität München) ,  Meitinger, Thomas (DZHK (German Centre for Cardiovascular Research), Partner Site Munich) ,  Meitinger, Thomas (Munich Heart Alliance) ,  Meitinger, Thomas (Munich Cluster for Systems Neurology (SyNergy)) ,  Haack, Tobias B. (Institute of Human Genetics, Helmholtz Zentrum München) ,  Haack, Tobias B. (Institute of Human Genetics, Technische Universität München) ,  Prokisch, Holger (Institute of Human Genetics, Helmholtz Zentrum München) ,  Prokisch, Holger (Institute of Human Genetics, Technische Universität München) ,  Nicholls, Thomas J. (MRC Mitochondrial Biology Unit) ,  Rorbach, Joanna (MRC Mitochondrial Biology Unit) ,  Pearce, Sarah F. (MRC Mitochondrial Biology Unit) ,  Powell, Christopher A. (MRC Mitochondrial Biology Unit) ,  Zeviani, Massimo (MRC Mitochondrial Biology Unit) ,  Zeviani, Massimo (Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta) ,  Minczuk, Michal (MRC Mitochondrial Biology Unit) ,  Metodiev, Metodi D. (INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine) ,  Chretien, Dominique (INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine) ,  Munnich, Arnold (INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine) ,  Munnich, Arnold (Departments of Pediatrics and Genetics, Hôpital Necker-Enfants Malades) ,  Rötig, Agnès (INSERM U1163, Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine) ,  Freisinger, Peter (Department of Pediatrics, Klinikum Reutlingen) ,  Mandel, Hanna (Metabolic Unit, Children's Hospital, Ramban Health Care Campus) ,  Vanlander, Arnaud (Department of Pediatric Neurology and Metabolism, University Hospital Ghent) ,  Smet, Joél (Department of Pediatric Neurology and Metabolism, University Hospital Ghent) ,  Van Coster, Rudy (Department of Pediatric Neurology and Metabolism, University Hospital Ghent) ,  Ghezzi, Daniele (Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta) ,  Invernizzi, Federica (Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta) ,  Lamantea, Eleonora (Unit of Molecular Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta) ,  Carrozzo, Rosalba (Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare, IRCCS Ospedale Pediatrico Bambino Gesù) ,  Bertini, Enrico S. (Unità di Malattie Neuromuscolari e Neurodegenerative, Laboratorio di Medicina Molecolare, IRCCS Ospedale Pediatrico Bambino Gesù) ,  Taylor, Robert W. (Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University) ,  Sommerville, Ewen W. (Wellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, Newcastle University)
Material： American Journal of Human Genetics
Volume： 95  Issue： 6  Page： 708-720  Publication year： 2014 
JST Material Number： SCOPUS  ISSN： 0002-9297  CODEN： AJHGA 
Country of issue： United States (USA)  Language： English (EN)