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

C. Ponzetto; N. Bresolin; A. Bordoni; M. Moggio; G. Meola; L. Bet; A. Prelle; G. Scarlato

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, N. Bresolin, A. Bordoni, M. Moggio, G. Meola, L. Bet, A. Prelle, G. Scarlato

Research output: Contribution to journal › Article

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.

Original language	English
Pages (from-to)	207-210
Number of pages	4
Journal	Journal of the Neurological Sciences
Volume	96
Issue number	2-3
DOIs	https://doi.org/10.1016/0022-510X(90)90133-8
Publication status	Published - 1990

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Keywords

Kearns-Sayre syndrome
Mitochondrial myopathies
mtDNA deletions

ASJC Scopus subject areas

Ageing
Clinical Neurology
Surgery
Neuroscience(all)
Developmental Neuroscience
Neurology

Cite this

Ponzetto, C., Bresolin, N., Bordoni, A., Moggio, M., Meola, G., Bet, L., Prelle, A., & Scarlato, G. (1990). Kearns-Sayre syndrome: Different amounts of deleted mitochondrial DNA are present in several autoptic tissues. Journal of the Neurological Sciences, 96(2-3), 207-210. https://doi.org/10.1016/0022-510X(90)90133-8

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AU - Bet, L.

AU - Prelle, A.

AU - Scarlato, G.

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Access to Document

10.1016/0022-510X(90)90133-8