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Mutational analysis of mitochondrial DNA in Brugada syndrome

机译:Brugada综合征线​​粒体DNA突变分析

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摘要

Background: Brugada syndrome (BrS) is a primary electrical disease associated with an increased risk of sudden cardiac death due to ventricular fibrillation. This pathology has nuclear heterogeneous genetic origins, and at present, molecular diagnostic tests on nuclear DNA cover only 30% of BrS patients. The aim of this study was to assess the possible involvement of mitochondrial (mt) DNA variants in BrS since their etiological role in several cardiomyopathies has already been described.
机译:背景:Brugada综合征(BrS)是一种原发性电气疾病,与因心室纤颤引起的心脏猝死的风险增加有关。这种病理学具有核异质的遗传起源,目前,对核DNA的分子诊断测试仅覆盖30%的BrS患者。这项研究的目的是评估线粒体(mt)DNA变体在BrS中的可能参与性,因为已经描述了它们在几种心肌病中的病因学作用。

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