Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation.

doi:10.1212/wnl.43.8.1586

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Article

Variable distribution of mutant mitochondrial DNAs (tRNA(Leu[3243])) in tissues of symptomatic relatives with MELAS: the role of mitotic segregation.

Neurology - 1 Aug 1993

Macmillan C, Lach B, Shoubridge E A

Abstract excerpt

We studied multiple different postmortem tissue samples from a woman and two of her daughters with the MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) tRNA(Leu(UUR)) mutation at nucleotide 3243 in mitochondrial DNA (mtDNA). All tissues examined were heteroplasmi...

Topics

Adolescent
Adult
DNA, Mitochondrial
Female
Humans
MELAS Syndrome
Mitosis
Mutation
Pedigree
RNA, Transfer, Leu

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