Mitochondrial Diseases: A Diagnostic Revolution.

Abstract excerpt

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)...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Mitochondrial Diseases
• Share to Mutation
• Share to Whole Genome Sequencing