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Case Reports
. 1993;16(1):27-30.
doi: 10.1007/BF00711311.

Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

Y Shoji  1 , W Sato, K Hayasaka, G Takada
Affiliations
Case Reports

Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS)

Y Shoji et al. J Inherit Metab Dis. 1993.

Abstract

We analysed the distribution of mutant mitochondrial DNA (mtDNA) with A-to-G substitution mutation of tRNA(Leu)(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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