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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
  1. M Gerards1,2,
  2. W Sluiter3,
  3. B J C van den Bosch1,2,
  4. L E A de Wit3,
  5. C M H Calis1,
  6. M Frentzen4,
  7. H Akbari4,
  8. K Schoonderwoerd5,
  9. H R Scholte3,6,
  10. R J Jongbloed1,
  11. A T M Hendrickx1,
  12. I F M de Coo7,
  13. H J M Smeets1,2
  1. 1Department of Genetics and Cell Biology, Unit Clinical Genomics, Maastricht University, Maastricht, The Netherlands
  2. 2School for Oncology and Developmental Biology, Maastricht University, Maastricht, The Netherlands
  3. 3Department of Biochemistry, Mitochondrial Research Unit, Erasmus MC, Rotterdam, The Netherlands
  4. 4Unit of Botany, Institute for Biology I, RWTH Aachen University, Aachen, Germany
  5. 5Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands
  6. 6Department of Neuroscience, Erasmus MC, Rotterdam, The Netherlands
  7. 7Department of Neurology, Erasmus MC, Rotterdam, The Netherlands
  1. Correspondence to Dr H J M Smeets, Department of Genetics and Cell Biology, PO Box 616, 6200 MD Maastricht, the Netherlands; Bert.Smeets{at}molcelb.unimaas.nl

Footnotes

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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Footnotes

  • Competing interests None.

  • Patient consent Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.

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