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
American Journal of Human Genetics | CELL PRESS | Published : 2008
Awarded by National Institutes of Health
We thank Andrew Cuthbert for advice on monochromosomal transfer. This work was supported by grants (D.R.T. and M.T.R.), postdoctoral fellowships (M.McK. and D.M.K.), and a principal research fellowship (D.R.T.) from the Australian National Health and Medical Research Council and a grant from the Australian Research Council (M.T.R.). C.S. was supported by a University of Melbourne postgraduate research scholarship. Grant funding was also received from the Muscular Dystrophy Association (D.R.T.), the Ramaciotti Foundation (M.McK.), and the National Institutes of Health (GM077465) (V.K.M.).