Leigh syndrome associated with a mutation in the NDUFS7 (PSST) nuclear encoded subunit of complex I
R. H. Triepels MSc
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorCorresponding Author
L. P. Van Den Heuvel PhD
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital Nijmegen, Geert Grooteplein 20, PO Box 9101, 6500 HB Nijmegen, The NetherlandsSearch for more papers by this authorJ. L. C. M. Loeffen MD
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorC. A. F. Buskens MSc
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorR. J. P. Smeets BSc
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorM. E. Rubio Gozalbo
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorS. M. S. Budde
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorE. C. Mariman
Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorF. A. Wijburg MD, PhD
Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Search for more papers by this authorP. G. Barth MD, PhD
Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Search for more papers by this authorJ. M. F. Trijbels PhD
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorJ. A. M. Smeitink MD, PhD
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorR. H. Triepels MSc
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorCorresponding Author
L. P. Van Den Heuvel PhD
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital Nijmegen, Geert Grooteplein 20, PO Box 9101, 6500 HB Nijmegen, The NetherlandsSearch for more papers by this authorJ. L. C. M. Loeffen MD
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorC. A. F. Buskens MSc
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorR. J. P. Smeets BSc
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorM. E. Rubio Gozalbo
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorS. M. S. Budde
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorE. C. Mariman
Department of Human Genetics, University Hospital Nijmegen, Nijmegen, The Netherlands
Search for more papers by this authorF. A. Wijburg MD, PhD
Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Search for more papers by this authorP. G. Barth MD, PhD
Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands
Search for more papers by this authorJ. M. F. Trijbels PhD
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorJ. A. M. Smeitink MD, PhD
Nijmegen Center for Mitochondrial Disorders, Department of Pediatrics, University Children's Hospital, Nijmegen, The Netherlands
Search for more papers by this authorAbstract
Leigh syndrome is the phenotypical expression of a genetically heterogeneous cluster of disorders, with pyruvate dehydrogenase complex deficiency and respiratory chain disorders as the main biochemical causes. We report the first missense mutation within the nuclear encoded complex I subunit, NDUFS7, in 2 siblings with neuropathologically proven complex I–deficient Leigh syndrome. Ann Neurol 1999;45:787–790
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