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m.4269A>G, MT-TI, Multisystem mitochondrial disease with progressive/dilated cardiomyopathy

tRNA variant m.4269A>G
Gene MT-TI
Disease Multisystem mitochondrial disease with progressive/dilated cardiomyopathy
Description Severe reduction of mt-tRNA Ile steady-state levels.
tRNAs tdbR00000169, trbR00001076
Publications
  • Mitochondrial tRNA(Ile) mutation in fatal cardiomyopathy.
    M Taniike, H Fukushima, I Yanagihara, H Tsukamoto, J Tanaka, H Fujimura, T Nagai, T Sano, K Yamaoka, K Inui
    Biochemical and biophysical research communications
    volume: 186 issue: 1 date: July 15, 1992 PUBMED ID: 1632786