Mitochondrial disease

发布时间:2023-03-22 22:08:39 浏览次数:37
Mitochondrial disease

线粒体疾病

英文解释

Mitochondrial diseases are clinically heterogeneous group of disorders that arise as a result of dysfunction of the mitochondria. They can be caused by mutation of genes encoded by either nuclear DNA or mitochondrial DNA. While some mitochondrial disorders only affect a single organ, most of them involve multiple organ systems and often present with prominent neurologic and myopathic features.

中文解释

线粒体疾病是由于线粒体功能障碍而引起的一组临床异质性疾病。它们可能是由核 DNA 或线粒体 DNA 编码的基因突变引起的。虽然一些线粒体疾病仅影响单个器官,但大多数线粒体疾病涉及多个器官系统,并且通常具有突出的神经和肌病特征。

参考文献

[1]. Chinnery, Patrick F. Primary Mitochondrial Disorders Overview.GeneReviews?, edited by Margaret P Adam et. al., University of Washington, Seattle, 8 June 2000.
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