We are using technical cookies that are necessary for page to work correctly.

m.3243A>G, MT-TL1 (mt-tRNA^Leu(UUR)), MELAS; also MIDD

tRNA variant m.3243A>G
Gene MT-TL1 (mt-tRNA^Leu(UUR))
Disease MELAS; also MIDD
Description Impaired taurine modification and mitochondrial translation; causes MELAS or MIDD depending on heteroplasmy.
tRNAs trbR00001078, tdbR00000248
Publications
  • A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.
    Y Goto, I Nonaka, S Horai
    Nature
    volume: 348 issue: 6302 date: Dec. 13, 1990 PUBMED ID: 2102678