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Neuropediatrics 2008; 39(6): 328-334
DOI: 10.1055/s-0029-1202287
Original Article

© Georg Thieme Verlag KG Stuttgart · New York

A Novel Mitochondrial DNA Mutation in COX1 Leads to Strokes, Seizures, and Lactic Acidosis

E. W. Y. Tam 1 , A. Feigenbaum 2 , J. B. L. Addis 3 , S. Blaser 4 , N. MacKay 5 , M. Al-Dosary 6 , R. W. Taylor 6 , C. Ackerley 5 , J. M. Cameron 3 , B. H. Robinson 2 , 3
  • 1Divison of Neurology, Hospital for Sick Children and the University of Toronto, Toronto, Canada
  • 2Division of Clinical Genetics, Department of Paediatrics, Hospital for Sick Children and the University of Toronto, Toronto, Canada
  • 3Programme in Genetics and Genome Biology, Research Institute, Hospital for Sick Children, Department of Biochemistry, University of Toronto, Toronto, Canada
  • 4Department of Diagnostic Imaging, Hospital for Sick Children, Toronto, Canada
  • 5Department of Paediatric Laboratory Medicine, Hospital for Sick Children, Toronto, Canada
  • 6Mitochondrial Research Group, School of Neurology, Neurobiology and Psychiatry, University of Newcastle upon Tyne, Newcatsle upon Tyne, U.K.