Epidemiology and treatment of mitochondrial disorders
Epidemiology and treatment of mitochondrial disorders
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DOI：
10.1002/ajmg.1426
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发表时间：
2001-03-01
期刊：
影响因子：
--
通讯作者：
Turnbull, DM
中科院分区：
文献类型：
--
作者：
Chinnery, PF;Turnbull, DM
在过去的十年里，线粒体疾病患者中发现的不同遗传缺陷的数量大幅增加，但线粒体疾病的真正影响才刚刚显现出来。线粒体疾病比预期的更为常见。尽管我们对线粒体病理学的理解也取得了重大进展，但线粒体疾病患者的临床治疗在很大程度上是支持性的。在本文中，我们重点关注线粒体呼吸链的原发性疾病和 mtDNA 缺陷。我们回顾了现有的流行病学数据，概述了线粒体疾病管理的当前策略，并强调了未来可能有用的新治疗方法，(C) 2001 Wiley-Liss, Inc.
The last ten years have seen a huge increase in the number of different genetic defects found in patients with mitochondrial disorders, but the true impact of mitochondrial disease is only just becoming apparent. Mitochondrial diseases are far more common than was anticipated. Although there have also been major advances in our understanding of mitochondrial pathology, the clinical management of patients with mitochondrial disease is largely supportive. In this article, we focus on primary disorders of the mitochondrial respiratory chain and mtDNA defects. We review the available epidemiological data, outline current strategies for the management of mitochondrial disease, and highlight new therapeutic approaches that may prove useful in the future, (C) 2001 Wiley-Liss, Inc.