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m.3303C>T, MT-TL1, Maternally inherited cardiomyopathy / myopathy

tRNA variant m.3303C>T
Gene MT-TL1
Disease Maternally inherited cardiomyopathy / myopathy
Description Acceptor stem mutation affecting tRNA stability and maturation.
tRNAs trbR00001078, tdbR00000248
Publications
  • A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.
    G Silvestri, F M Santorelli, S Shanske, C B Whitley, L A Schimmenti, S A Smith, S DiMauro
    Human mutation
    volume: 3 issue: 1 PUBMED ID: 7906985