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m.5703G>A, MT-TN (mt-tRNA^Asn), Mitochondrial myopathy / isolated ophthalmoplegia

tRNA variant m.5703G>A
Gene MT-TN (mt-tRNA^Asn)
Disease Mitochondrial myopathy / isolated ophthalmoplegia
Description Conformational changes and reduced steady-state tRNA levels.
tRNAs trbR00001072
Publications
  • Two novel pathogenic mitochondrial DNA mutations affecting organelle number and protein synthesis. Is the tRNA(Leu(UUR)) gene an etiologic hot spot?
    C T Moraes, F Ciacci, E Bonilla, C Jansen, M Hirano, N Rao, R E Lovelace, L P Rowland, E A Schon, S DiMauro
    The Journal of clinical investigation
    volume: 92 issue: 6 PUBMED ID: 8254046