O.24 Loss of function of MGME1, a novel player in mitochondrial DNA replication, causes a distinct autosomal recessive mitochondrial disorder
Year: 2013
Type: article
Study design: Case Report
Source: Neuromuscular Disorders
Authors: C. Kornblum, T. Nicholls, T.B. Haack, S. Schoeler, V. Peeva, K. Danhauser, K. Hallmann, G. Zsurka, J. Rorbach, A. Iuso, T. Wieland, M. Sciacco, D. Ronchi, G.P. Comi, M. Moggio, C.M. Quinzii, S. DiMauro, S.E. Calvo, V.K. Mootha, T. Klopstock, T.M. Strom, T. Meitinger, M. Minczuk, W.S. Kunz, H. Prokisch
Institutions: University Hospital Bonn, MRC Mitochondrial Biology Unit, Medical Research Council, Helmholtz Munich, Institut für Humangenetik, Technical University of Munich, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Columbia University Irving Medical Center, Broad Institute, Harvard University, Massachusetts General Hospital, Ludwig-Maximilians-Universität München
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W1977604654