Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Garone, Caterina; D'Souza, Aaron R; Dallabona, Cristina; Lodi, Tiziana; Rebelo-Guiomar, Pedro; Rorbach, Joanna; Donati, Alice; Procopio, Elena; Montomoli, Martino; Guerrini, Renzo; Zeviani, Massimo; Calvo, Sarah; Mootha, Vamsi; DiMauro, Salvatore; Ferrero, Iliana; Minczuk, Michal

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Published version

Peer-reviewed

Repository URI

https://www.repository.cam.ac.uk/handle/1810/291827

Repository DOI

https://doi.org/10.17863/CAM.38987

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Published version (1.07 MB)

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Conference Object

Authors

Garone, Caterina

https://orcid.org/0000-0003-4928-1037

D'Souza, Aaron R

Dallabona, Cristina

Lodi, Tiziana

Rebelo-Guiomar, Pedro

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Journal Title

NEUROLOGY

Journal ISSN

0028-3878
1526-632X

Volume Title

90

Publisher DOI

https://doi.org/10.17863/CAM.38987

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Attribution 4.0 International

Sponsorship

European Commission Horizon 2020 (H2020) Marie Sk?odowska-Curie actions (705560)
Medical Research Council (MC_UU_00015/4)

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Cambridge University Research Outputs

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Published version

Peer-reviewed

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