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 › peer-review

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

Keywords

Kearns-Sayre syndrome
Mitochondrial myopathies
mtDNA deletions

ASJC Scopus subject areas

Ageing
Clinical Neurology
Surgery
Neuroscience(all)
Developmental Neuroscience
Neurology

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

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

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.",

keywords = "Kearns-Sayre syndrome, Mitochondrial myopathies, mtDNA deletions",

author = "C. Ponzetto and N. Bresolin and A. Bordoni and M. Moggio and G. Meola and L. Bet and A. Prelle and G. Scarlato",

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language = "English",

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T2 - Different amounts of deleted mitochondrial DNA are present in several autoptic tissues

AU - Ponzetto, C.

AU - Bresolin, N.

AU - Bordoni, A.

AU - Moggio, M.

AU - Meola, G.

AU - Bet, L.

AU - Prelle, A.

AU - Scarlato, G.

PY - 1990

Y1 - 1990

N2 - 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.

AB - 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.

KW - Kearns-Sayre syndrome

KW - Mitochondrial myopathies

KW - mtDNA deletions

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

Abstract

Keywords

ASJC Scopus subject areas

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