卡恩斯-塞尔综合征：在多个尸检组织中存在不同数量的线粒体DNA缺失。
Kearns-Sayre syndrome: different amounts of deleted mitochondrial DNA are present in several autoptic tissues.
作者信息
Ponzetto C, Bresolin N, Bordoni A, Moggio M, Meola G, Bet L, Prelle A, Scarlato G
机构信息
Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Italy.
出版信息
J Neurol Sci. 1990 May;96(2-3):207-10. doi: 10.1016/0022-510x(90)90133-8.
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.
在一名死于卡恩-塞尔综合征（KSS）的患者的尸检肌肉、心脏、皮质、小脑、肝脏和肾脏中，发现了不同数量的缺失线粒体DNA（mtDNA）。这种缺失的广泛存在与KSS的多系统性质相关，并支持了这样一种假说，即这是一种由于mtDNA改变而导致的遗传疾病，这种改变可能发生在卵母细胞或早期胚胎中。
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