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m.7512T>C, MT-TS1 (mt-tRNA^Ser(UCN)), MERRF/MELAS overlap; hearing loss may occur

tRNA variant m.7512T>C
Gene MT-TS1 (mt-tRNA^Ser(UCN))
Disease MERRF/MELAS overlap; hearing loss may occur
Description One of several deafness-associated mt-tRNA Ser mutations.
tRNAs trbR00001085
Publications
  • A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome.
    M Nakamura, S Nakano, Y Goto, M Ozawa, Y Nagahama, H Fukuyama, I Akiguchi, R Kaji, J Kimura
    Biochemical and biophysical research communications
    volume: 214 issue: 1 date: Sept. 5, 1995 PUBMED ID: 7669057