Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Author:

Garone Caterina12,D’Souza Aaron R1,Dallabona Cristina3,Lodi Tiziana3,Rebelo-Guiomar Pedro14,Rorbach Joanna1,Donati Maria Alice5,Procopio Elena5,Montomoli Martino6,Guerrini Renzo6,Zeviani Massimo1,Calvo Sarah E78,Mootha Vamsi K8,DiMauro Salvatore2,Ferrero Ileana3,Minczuk Michal1

Affiliation:

1. Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, UK

2. Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA

3. Department of Chemistry, Life Sciences and Environmental Sustainability - University of Parma, Parma 43121, Italy

4. Graduate Program in Areas of Basic and Applied Biology (GABBA), University of Porto, 4099-002, Portugal

5. Metabolic Unit, A. Meyer Children's Hospital, Florence 50139, Italy

6. Pediatric Neurology Unit and Laboratories, “A. Meyer” Children's Hospital, University of Florence, 50139, Italy

7. Broad Institute of MIT & Harvard, Cambridge, MA 02142, USA

8. Department of Molecular Biology and Howard Hughes Medical Institute, Massachusetts General Hospital, and Department of Systems Biology, Harvard Medical School, Boston, MA 02115, USA

Funder

National Institutes of Health

Publisher

Oxford University Press (OUP)

Subject

Genetics (clinical),Genetics,Molecular Biology,General Medicine

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