Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke‐like episodes (MELAS)
- 2 July 1992
- journal article
- case report
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 16 (1) , 27-30
- https://doi.org/10.1007/bf00711311
Abstract
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.Keywords
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