Summary
We analysed the distribution of mutant mitochondrial DNA (mtDNA) with A-to-G substitution mutation of tRNALeu(UUR) in various autopsied tissues from a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). There was no significant difference in the proportion (76–86%) of mutant mtDNA in many tissues, except in the lung and spleen. Unequal partitioning of mtDNA in somatic cells appears less prominent than that in germ cells.
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Shoji, Y., Sato, W., Hayasaka, K. et al. Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). J Inherit Metab Dis 16, 27–30 (1993). https://doi.org/10.1007/BF00711311
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DOI: https://doi.org/10.1007/BF00711311