Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

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Authors: Caterina Garone, Aaron R D’Souza, Cristina Dallabona, Tiziana Lodi, Pedro Rebelo-Guiomar, Joanna Rorbach, Maria Alice Donati, Elena Procopio, Martino Montomoli, Renzo Guerrini, Massimo Zeviani, Sarah E Calvo, Vamsi K Mootha, Salvatore DiMauro, Ileana Ferrero, Michal Minczuk

Journal title: Human Molecular Genetics

Journal number: 26/21

Journal publisher: Oxford University Press

Published year: 2017

Published pages: 4257-4266

DOI identifier: 10.1093/hmg/ddx314

ISSN: 0964-6906