Defects in nuclear-encoded proteins of themitochondrial translationmachinery cause early-onset and tissue-specific deficiency of one ormore 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 decreasedmtDNA copy number (40%) were detected in muscle homogenate.
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS - like clinical syndrome / Garone, C., R, D.A., Dallabona, C., Lodi, T., - Guiomar P, R., Rorbach, J., A, D.M., Procopio, E., Montomoli, M., Guerrini, R., Zeviani, M., E, C.S., K, M.V., Dimauro, S., Ferrero, I., Minczuk, M.. - In: HUMAN MOLECULAR GENETICS ONLINE. - ISSN 1460-2083. - ELETTRONICO. - (2017), pp. 4257-4266. [10.1093/hmg/ddx314]
Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS - like clinical syndrome
Montomoli M;Guerrini R;Zeviani M;DiMauro s;
2017
Abstract
Defects in nuclear-encoded proteins of themitochondrial translationmachinery cause early-onset and tissue-specific deficiency of one ormore 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 decreasedmtDNA copy number (40%) were detected in muscle homogenate.
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