Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome

Defects in nuclear-encoded proteins of the mitochondrial translation machinery cause early-onset and tissue-specific deficiency of one or more OXPHOS complexes. Here, we report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPH...

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Detalles Bibliográficos
Autores principales: Garone, Caterina, D’Souza, Aaron R, Dallabona, Cristina, Lodi, Tiziana, Rebelo-Guiomar, Pedro, Rorbach, Joanna, Donati, Maria Alice, Procopio, Elena, Montomoli, Martino, Guerrini, Renzo, Zeviani, Massimo, Calvo, Sarah E, Mootha, Vamsi K, DiMauro, Salvatore, Ferrero, Ileana, Minczuk, Michal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2017
Materias:
Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5886288/
https://www.ncbi.nlm.nih.gov/pubmed/28973171
http://dx.doi.org/10.1093/hmg/ddx314

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