Article
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.
Human molecular genetics - 1 Nov 2017
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
Abstract excerpt
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 OXPHOS defects and decreased mtDNA copy number (40%) were detected in muscle homogenate. Clinical features combined with...
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