KEARNS-SAYRE SYNDROME - DIFFERENT AMOUNTS OF DELETED MITOCHONDRIAL-DNA ARE PRESENT IN SEVERAL AUTOPTIC TISSUES

被引：29

作者：

PONZETTO, C ^{[1
]}

BRESOLIN, N ^{[1
]}

BORDONI, A ^{[1
]}

MOGGIO, M ^{[1
]}

MEOLA, G ^{[1
]}

BET, L ^{[1
]}

PRELLE, A ^{[1
]}

SCARLATO, G ^{[1
]}

机构：

[1] UNIV MILAN,CTR DINO FERRARI IST CLIN NEUROL,I-20122 MILAN,ITALY

来源：

JOURNAL OF THE NEUROLOGICAL SCIENCES | 1990年 / 96卷 / 2-3期

关键词：

Kearns-Sayre syndrome; Mitochondrial myopathies; mtDNA deletions;

D O I：

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

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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. © 1990.

引用

页码：207 / 210

页数：4

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