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Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
  1. Curtis R Coughlin II1,
  2. Gunter H Scharer1,2,3,
  3. Marisa W Friederich1,
  4. Hung-Chun Yu1,
  5. Elizabeth A Geiger1,
  6. Geralyn Creadon-Swindell1,
  7. Abigail E Collins4,
  8. Arnaud V Vanlander5,
  9. Rudy Van Coster5,
  10. Christopher A Powell6,
  11. Michael A Swanson1,
  12. Michal Minczuk6,
  13. Johan L K Van Hove1,
  14. Tamim H Shaikh1,2
  1. 1Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, Colorado, USA
  2. 2Intellectual and Developmental Disabilities Research Center, University of Colorado School of Medicine, Aurora, Colorado, USA
  3. 3Department of Pediatrics, Section of Clinical Genetics, Medical College of Wisconsin, Milwaukee, Wisconsin, USA
  4. 4Department of Pediatrics, Section of Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA
  5. 5Department of Pediatrics, Division of Pediatric Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium
  6. 6MRC Mitochondrial Biology Unit, Cambridge, UK
  1. Correspondence to Dr Tamim H Shaikh, Department of Pediatrics, Section of Genetics, University of Colorado School of Medicine, Aurora, CO 80045, USA; tamim.shaikh{at}ucdenver.edu

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