Comprehensive molecular diagnosis of mitochondrial disorders: qualitative and quantitative approach.

Abstract excerpt

Mitochondrial disorders can be caused by mutations in nuclear or mitochondrial encoded genes. Point mutations and large deletions in mitochondrial DNA (mtDNA) are responsible for a small portion of the molecular defects in the mitochondrial oxidative phosphorylation system. A significant number of molecular defects of respiratory chain disorders are probably due to mutations in nuclear genes. Molecular diagnosis...

Topics

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

• Share to DNA, Mitochondrial
• Share to DNA Mutational Analysis
• Share to Electron Transport