Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene

著录项

• 来源
  《Brain 》 |2006年第7期| 1674-1684| 共11页
• 作者

  Rita Horvath1; Gavin Hudson7; Gianfrancesco Ferrari11; Nancy Fütterer2; Sofia Ahola13; Eleonora Lamantea11; Holger Prokisch5; Hanns Lochmüller3; Robert McFarland79; V. Ramesh9; Thomas Klopstock4; Peter Freisinger2; Fabrizio Salvi12; Johannes A. Mayr15; Rene Santer6 Marketa Tesarova16; Jiri Zeman16; Bjarne Udd14 Robert W. Taylor7 Douglass Turnbull7 Michael Hanna10; Doreen Fialho10; Anu Suomalainen13; Massimo Zeviani11; and Patrick F. Chinnery78;

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• 作者单位

  Metabolic Diseases Centre Munich-Schwabing Institutes of Clinical Chemistry Molecular Diagnostics and Mitochondrial Genetics Academic Hospital Schwabing Munich Germany;

  Metabolic Diseases Centre Munich-Schwabing Children's Hospital and Institute of Medical Genetics Technical University Munich Germany;

  Friedrich Baur Institute Ludwig Maximilians University Munich Germany;

  Department of Neurology Ludwig Maximilians University Munich Germany;

  Institute of Human Genetics GSF Research Centre for Environment and Health Neuherberg Germany;

  Department of Pediatrics University Medical Center Hamburg-Eppendorf Hamburg Germany;

  Mitochondrial Research Group University of Newcastle upon Tyne UK;

  Institute for Human Genetics University of Newcastle upon Tyne UK;

  Department of Paediatric Neurology Newcastle General Hospital Newcastle upon Tyne UK;

  Department of Molecular Neuroscience Institute of Neurology University College London Queen Square London UK;

  Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children's Mitochondrial Disorders National Neurological Institute Milan Italy;

  Department of Neurosciences Unit of Neurology ‘Bellaria’ Hospital Bologna Italy;

  Department of Medical Genetics Programme of Neurosciences University of Helsinki Finland;

  Department of Neurology Vaasa Central Hospital Vaasa Finland;

  Clinic of Pediatrics Paracelsus Medical University Salzburg Austria;

  Department of Pediatrics and Centre for Applied Genomics Faculty of Medicine Charles University Prague Czech Republic;

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• 原文格式 PDF
• 正文语种 eng
• 中图分类
• 关键词

  mitochondrial encephalopathy; mitochondrial DNA; polymerase gamma; mtDNA; chronic progressive external ophthalmoplegia; Alpers syndrome;

  机译：线粒体脑病线粒体DNA聚合酶γ线粒体慢性进行性眼外肌麻痹;阿尔卑斯综合征;