Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome
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DOI: 10.1093/hmg/ddx314
Abstract: Abstract 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… read more here.
Keywords: rrna; causes melas; mrm2 causes; melas like ... See more keywords