Mutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial disease.
Sugiana C, Pagliarini DJ, McKenzie M, Kirby DM, Salemi R, Abu-Amero KK, Dahl HH, Hutchison WM, Vascotto KA, Smith SM, Newbold RF, Christodoulou J, Calvo S, Mootha VK, Ryan MT, Thorburn DR.
Am J Hum Genet. 2008 Oct;83(4):468-78.PMID: 18940309 [PubMed - indexed for MEDLINE]Related articlesFree article