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  • Title: Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome.
    Author: Huang CC, Chu NS, Shih KD, Pang CY, Wei YH.
    Journal: J Formos Med Assoc; 1995 Apr; 94(4):159-63. PubMed ID: 7606176.
    Abstract:
    The distribution and clinical expression of mutant mtDNA with an A-to-G transition at the 8,344th nucleotide position in the tRNA(Lys) gene were studied in different tissues of the probands and relatives in a Taiwanese family with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome. The proportions of mutant mtDNA were 89% to 95% for muscles and 78% to 99% for blood cells in the symptomatic probands except for one who had no mutant mtDNA in the muscles. In asymptomatic maternal relatives, these were 1% to 80% for muscles and 54% to 78% for blood cells. However, there was a lack of correlation between the clinical severity and the proportion of mutant mtDNA. Furthermore, among the maternal relatives studied, some asymptomatic family members had proportions of mutant mtDNA > 80% in muscles and > 53% in blood cells. Although these findings may suggest a threshold effect of mtDNA in MERRF syndrome, clinical manifestations are difficult to predict from the proportions of mutant mtDNA at the tRNA(Lys) gene only.
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