Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.

doi:10.1136/jmg.31.1.41

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Article

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.

Journal of medical genetics - 1 Jan 1994

Matthews P M, Hopkin J, Brown R M, Stephenson J B, Hilton-Jones D, Brown G K

Abstract excerpt

In this report, levels of the 3243 A to G mtDNA mutation associated with the mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome were measured in different heteroplasmic tissues of subjects in a kindred including adults with variable clinical phenotypes and a...

Topics

Adult
Aging
DNA, Mitochondrial
Female
Fetus
Humans
MELAS Syndrome
Male
Mutation
Pedigree

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