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Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis.
Gusic, Mirjana; Schottmann, Gudrun; Feichtinger, René G; Du, Chen; Scholz, Caroline; Wagner, Matias; Mayr, Johannes A; Lee, Chae-Young; Yépez, Vicente A; Lorenz, Norbert; Morales-Gonzalez, Susanne; Panneman, Daan M; Rötig, Agnès; Rodenburg, Richard J T; Wortmann, Saskia B; Prokisch, Holger; Schuelke, Markus.
  • Gusic M; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany.
  • Schottmann G; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Hu
  • Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
  • Du C; Institute of Human Genetics, Medizinische Hochschule Hannover, 30625 Hannover, Germany.
  • Scholz C; Institute of Human Genetics, Medizinische Hochschule Hannover, 30625 Hannover, Germany.
  • Wagner M; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Neuherberg, Germany.
  • Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
  • Lee CY; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Hu
  • Yépez VA; Department of Informatics, Technical University of Munich, 81371 Garching, Germany.
  • Lorenz N; Department of Pediatric Cardiology, Municipal Hospital Dresden, 01307 Dresden, Germany.
  • Morales-Gonzalez S; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Hu
  • Panneman DM; Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525, the Netherlands.
  • Rötig A; UMR 1163, Université Paris Descartes, Sorbonne Paris Cité, Institut IMAGINE, 24 Boulevard du Montparnasse, 75015 Paris, France.
  • Rodenburg RJT; Radboud Center for Mitochondrial Disorders, Department of Pediatrics, Radboud UMC, Nijmegen 6525, the Netherlands.
  • Wortmann SB; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.
  • Prokisch H; Institute of Human Genetics, Helmholtz Zentrum München, 85764 Neuherberg, Germany; Institute of Human Genetics, Technical University Munich, 81675 Munich, Germany.
  • Schuelke M; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Humboldt-Universität zu Berlin, and Berlin Institute of Health: NeuroCure Cluster of Excellence, 10117 Berlin, Germany; Charité-Universitätsmedizin Berlin, corporate member of the Freie Universität Berlin and Hu
Am J Hum Genet ; 106(1): 102-111, 2020 01 02.
Article en En | MEDLINE | ID: mdl-31883641
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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Complejo III de Transporte de Electrones / Enfermedades Mitocondriales / Alopecia / Proteínas Hierro-Azufre / Mutación / Cardiomiopatías Tipo de estudio: Risk_factors_studies Límite: Child / Humans / Infant / Male Idioma: En Año: 2020 Tipo del documento: Article
Texto completo
Imprimir
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PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Complejo III de Transporte de Electrones / Enfermedades Mitocondriales / Alopecia / Proteínas Hierro-Azufre / Mutación / Cardiomiopatías Tipo de estudio: Risk_factors_studies Límite: Child / Humans / Infant / Male Idioma: En Año: 2020 Tipo del documento: Article