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. 1990 May;96(2-3):207-10.
doi: 10.1016/0022-510x(90)90133-8.

Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues

C Ponzetto  1 , N Bresolin, A Bordoni, M Moggio, G Meola, L Bet, A Prelle, G Scarlato
Affiliations

Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues

C Ponzetto et al. J Neurol Sci. 1990 May.

Abstract

A population of deleted mitochondrial DNA (mtDNA) was found in different amounts in autoptic muscle, heart, cortex, cerebellum, liver and kidney of a patient who died of Kearn-Sayre Syndrome (KSS). The widespread occurrence of the deletion correlates with the multisystem nature of KSS and supports the hypothesis that this is a genetic disease due to an alteration of mtDNA presumably arising in the oocyte or early embryo.

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