The spectrum of clinical disease caused by the A467T and W748S POLG mutations: a study of 26 cases

著录项

• 来源
  《Brain》 |2006年第7期|1685-1692|共8页
• 作者

  Charalampos Tzoulis1; Bernt A. Engelsen1; Wenche Telstad2; Jan Aasly3; Massimo Zeviani4 Synnøve Winterthun1; Gianfrancesco Ferrari4 Jan H. Aarseth1; and Laurence A. Bindoff1;

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• 作者单位

  Department of Neurology Institute of Clinical Medicine University of Bergen and Haukeland University Hospital Bergen;

  Førde Central Hospital Førde;

  St Olav's Hospital Trondheim Norway;

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

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• 收录信息
• 原文格式 PDF
• 正文语种 eng
• 中图分类
• 关键词

  mitochondrial; POLG; ataxia; hepatic; Alpers;

  机译：线粒体POLG;共济失调;肝阿尔珀斯;