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Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy

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Figure 1: NDUFV1 mutations in patients with isolated complex I deficiency.
Figure 2: Alignment of NADH dehydrogenases of different species.

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GenBank/EMBL/DDBJ

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Acknowledgements

We thank the patients and their families for participation; and A. Janssen and M. Bakker. The study was supported by the Deutsche Forschungsgemeinschaft (Schu 1187/1-1), the Parents' action group "Helft dem muskelkranken Kind" (Hamburg), the "Prinses Beatrix Fonds", the Stichting "Kinderen die wel willen maar niet kunnen" and the "Fonds Bevordering Wetenschapsbeoefening" from the Department of Pediatrics, University Hospital Nijmegen (to J.S. and L.v.d.H.).

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  1. Markus Schuelke

    Present address: Department of Neuropediatrics, Virchow-Charité University Hospital, Augustenburger Platz 1, D-13353, Berlin, Germany

Authors and Affiliations

  1. Department of Pediatrics, Nijmegen Center for Mitochondrial Disorders, University Hospital Nijmegen, Nijmegen, The Netherlands

    Markus Schuelke, Jan Smeitink, Jan Loeffen, Frans Trijbels & Lambert van den Heuvel

  2. Department of Human Genetics, Nijmegen Center for Mitochondrial Disorders, University Hospital Nijmegen, Nijmegen, The Netherlands

    Edwin Mariman

  3. Universitätsklinik für Kinder- und Jugendheilkunde, Universität Graz, Austria

    Barbara Plecko

  4. Department of Pediatrics, University of Vienna, Austria

    Sylvia Stöckler-Ipsiroglu

Authors
  1. Markus Schuelke
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  2. Jan Smeitink
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  4. Jan Loeffen
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  5. Barbara Plecko
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  8. Lambert van den Heuvel
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Correspondence to Jan Smeitink.

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Schuelke, M., Smeitink, J., Mariman, E. et al. Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy. Nat Genet 21, 260–261 (1999). https://doi.org/10.1038/6772

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