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Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies.
Feichtinger, René G; Oláhová, Monika; Kishita, Yoshihito; Garone, Caterina; Kremer, Laura S; Yagi, Mikako; Uchiumi, Takeshi; Jourdain, Alexis A; Thompson, Kyle; D'Souza, Aaron R; Kopajtich, Robert; Alston, Charlotte L; Koch, Johannes; Sperl, Wolfgang; Mastantuono, Elisa; Strom, Tim M; Wortmann, Saskia B; Meitinger, Thomas; Pierre, Germaine; Chinnery, Patrick F; Chrzanowska-Lightowlers, Zofia M; Lightowlers, Robert N; DiMauro, Salvatore; Calvo, Sarah E; Mootha, Vamsi K; Moggio, Maurizio; Sciacco, Monica; Comi, Giacomo P; Ronchi, Dario; Murayama, Kei; Ohtake, Akira; Rebelo-Guiomar, Pedro; Kohda, Masakazu; Kang, Dongchon; Mayr, Johannes A; Taylor, Robert W; Okazaki, Yasushi; Minczuk, Michal; Prokisch, Holger.
Afiliación
  • Feichtinger RG; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
  • Oláhová M; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Kishita Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-1241, Japan; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo 113-8421, Japan.
  • Garone C; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK; Department of Neurology, Columbia University Medical Center, New York, NY 10032-3784, USA.
  • Kremer LS; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Yagi M; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
  • Uchiumi T; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
  • Jourdain AA; Howard Hughes Medical Institute, Department of Molecular Biology, Center for Genome Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Thompson K; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • D'Souza AR; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK.
  • Kopajtich R; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany.
  • Alston CL; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Koch J; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
  • Sperl W; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
  • Mastantuono E; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Strom TM; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Wortmann SB; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Meitinger T; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; DZHK (German Centre for Cardiovascular Research), partner site Munich Heart Alliance, 80802 Munich, Germany.
  • Pierre G; South West Regional Metabolic Department, Bristol Royal Hospital for Children, Bristol BS1 3NU, UK.
  • Chinnery PF; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK.
  • Chrzanowska-Lightowlers ZM; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Lightowlers RN; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • DiMauro S; Department of Neurology, Columbia University Medical Center, New York, NY 10032-3784, USA.
  • Calvo SE; Howard Hughes Medical Institute, Department of Molecular Biology, Center for Genome Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Mootha VK; Howard Hughes Medical Institute, Department of Molecular Biology, Center for Genome Medicine, Massachusetts General Hospital, Boston, MA 02114, USA; Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.
  • Moggio M; Neuromuscular Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.
  • Sciacco M; Neuromuscular Unit, Fondazione IRCCS Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.
  • Comi GP; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.
  • Ronchi D; Neuroscience Section, Department of Pathophysiology and Transplantation, Dino Ferrari Center, University of Milan, IRCCS Foundation Ca' Granda, Ospedale Maggiore Policlinico, 20122 Milan, Italy.
  • Murayama K; Department of Metabolism, Chiba Children's Hospital, Chiba 266-0007, Japan.
  • Ohtake A; Department of Pediatrics, Faculty of Medicine, Saitama Medical University, Saitama 350-0495, Japan.
  • Rebelo-Guiomar P; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK; Graduate Program in Areas of Basic and Applied Biology, University of Porto, 4099-002 Porto, Portugal.
  • Kohda M; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-1241, Japan; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo 113-8421, Japan.
  • Kang D; Department of Clinical Chemistry and Laboratory Medicine, Graduate School of Medical Sciences, Kyushu University, 3-1-1 Maidashi, Higashi-ku, Fukuoka 812-8582, Japan.
  • Mayr JA; Department of Pediatrics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.
  • Taylor RW; Wellcome Centre for Mitochondrial Research, Institute of Neuroscience and Institute for Cell and Molecular Biosciences, Newcastle University, Newcastle upon Tyne NE2 4HH, UK.
  • Okazaki Y; Research Center for Genomic Medicine, Saitama Medical University, Saitama 350-1241, Japan; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Juntendo University, Graduate School of Medicine, Tokyo 113-8421, Japan.
  • Minczuk M; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Wellcome Trust, MRC Building, Cambridge CB2 0XY, UK.
  • Prokisch H; Institute of Human Genetics, Technische Universität München, 81675 Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany. Electronic address: prokisch@helmholtz-muenchen.de.
Am J Hum Genet ; 101(4): 525-538, 2017 Oct 05.
Article en En | MEDLINE | ID: mdl-28942965
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Portadoras / Enfermedades Mitocondriales / Proteínas Mitocondriales / Transporte de Electrón / Mutación / Cardiomiopatías Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Austria
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Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Proteínas Portadoras / Enfermedades Mitocondriales / Proteínas Mitocondriales / Transporte de Electrón / Mutación / Cardiomiopatías Tipo de estudio: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Idioma: En Revista: Am J Hum Genet Año: 2017 Tipo del documento: Article País de afiliación: Austria