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2.1.1.B123
medicine
mutation G189R identified in a 7-year-old boy with childhood-onset rapidly progressive encephalomyopathy and stroke-like episodes. Multiple OXPHOS defects and decreased mtDNA copy number (40%) are detected in muscle homogenate. Symptoms are similar to mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) syndrome. A yeast MRM2 knockout mutant shows a defect in respiration and the reduction of the 2'-O-methylmodification at position U2791 in the yeast mitochondrial 21S rRNA. Complementation of the yeast knockout mutant with the human mutant Mrm2 fails to rescue the respiratory phenotype, which is instead completely rescued by expressing the wild-type allele
756899
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