Mitochondrial disease: genetics and management
Mitochondrial disease: genetics and management
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DOI：
10.1007/s00415-015-7884-3
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发表时间：
2016-01-01
影响因子：
6
通讯作者：
Turnbull, Doug M.
中科院分区：
文献类型：
--
作者：
Ng, Yi Shiau;Turnbull, Doug M.
线粒体疾病是最常见的遗传性疾病之一，在成人中最低患病率大于1 / 5000。虽然多系统受累通常很明显，但大多数病例的主要表现是神经系统表现。多种临床表型以及线粒体和核基因组的参与使得线粒体疾病对临床医生尤其具有挑战性。在这篇综述文章中，我们涵盖了线粒体遗传学和与成人线粒体疾病相关的常见神经学表现。此外，还讨论了具体的支持性治疗方法。
Mitochondrial disease is one of the most common groups of genetic diseases with a minimum prevalence of greater than 1 in 5000 in adults. Whilst multi-system involvement is often evident, neurological manifestation is the principal presentation in most cases. The multiple clinical phenotypes and the involvement of both the mitochondrial and nuclear genome make mitochondrial disease particularly challenging for the clinician. In this review article we cover mitochondrial genetics and common neurological presentations associated with adult mitochondrial disease. In addition, specific and supportive treatments are discussed.