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'Souza A.; Dallabona, C; Lodi, T; - Guiomar P, Rebelo; Rorbach, J; A, Donati M.; Procopio, E; Montomoli, M; Guerrini, R; Zeviani, M; E, Calvo S.; K, Mootha 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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