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m.3271T>C, MT-TL1, MELAS

tRNA variant m.3271T>C
Gene MT-TL1
Disease MELAS
Description Second most common MELAS mutation affecting mt-tRNA Leu(UUR).
tRNAs trbR00001078, tdbR00000248
Publications
  • A new mtDNA mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS).
    Y Goto, I Nonaka, S Horai
    Biochimica et biophysica acta
    volume: 1097 issue: 3 date: Oct. 21, 1991 PUBMED ID: 1932147