Mitochondrial disorders have emerged as a common cause of inherited disease, but are traditionally viewed as being difficult to diagnose clinically, and even more difficult to comprehensively characterize at the molecular level. However, new sequencing approaches, particularly whole-genome sequencing (WGS), have dramatically changed the landscape. The combined analysis of nuclear and mitochondrial DNA (mtDNA) allows rapid diagnosis for the vast majority of patients, but new challenges have emerged. We review recent discoveries that will benefit patients and families, and highlight emerging questions that remain to be resolved.

中文翻译：

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线粒体疾病：诊断革命。

线粒体疾病已成为遗传性疾病的常见原因，但传统上被认为难以临床诊断，更难以在分子水平上全面表征。然而，新的测序方法，特别是全基因组测序（WGS），已经极大地改变了这一现状。核 DNA 和线粒体 DNA (mtDNA) 的联合分析可以对绝大多数患者进行快速诊断，但新的挑战也出现了。我们回顾了最近有利于患者和家庭的发现，并强调了仍有待解决的新问题。