Defective mitochondrial rrna methyltransferase mrm2 causes melas -like clinical syndrome

HIGHLIGHTS

• who: Caterina Garone and collaborators from the Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge , XY, UK have published the research work: Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS -like clinical syndrome, in the Journal: (JOURNAL) of July/13,/2017
• what: The authors report a 7-year-old Italian boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. The authors report for the first time that defects in the nucleotide modification of mitochondrial ribosomal rRNA can lead to human disorders of mitochondrial respiration. The authors report a patient presenting with encephalopathy . . .
  

   

  

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