Mutation of C20orf7 Disrupts Complex I Assembly and Causes Lethal Neonatal Mitochondrial Disease

Canny Sugiana, David J. Pagliarini, Matthew McKenzie, Denise M. Kirby, Renato Salemi, Khaled K. Abu-Amero, Hans Henrik M. Dahl, Wendy M. Hutchison, Katherine A. Vascotto, Stacey M. Smith, Robert F. Newbold, John Christodoulou, Sarah Calvo, Vamsi K. Mootha, Michael T. Ryan, David R. Thorburn

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Medicine & Life Sciences