Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

Authors: Cornelia Kornblum, Thomas J. Nicholls, Tobias B. Haack, Susanne Schöler, Viktoriya Peeva, Katharina Danhauser, Kerstin Hallmann, Gábor Zsurka, Joanna Rorbach, Arcangela Iuso, Thomas Wieland, Monica Sciacco, Dario Ronchi, Giacomo P. Comi, Maurizio Moggio, Catarina M. Quinzii, Salvatore DiMauro, Sarah E. Calvo, Vamsi K. Mootha, Thomas Klopstock, Tim M. Strom, Thomas Meitinger, Michal Minczuk, Wolfram S. Kunz, Holger Prokisch - Nature Genetics 2013 cited by 235