Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
Curtis R Coughlin, Gunter H Scharer, Marisa W Friederich, Hung-Chun Yu, Elizabeth A Geiger, Geralyn Creadon-Swindell, Abigail E Collins, Arnaud V Vanlander, Rudy Van Coster, Christopher A Powell, Michael A Swanson, Michal Minczuk, Johan L K Van Hove, Tamim H Shaikh
Journal of Medical Genetics Aug 2015, 52 (8) 532-540; DOI: 10.1136/jmedgenet-2015-103049