Molecular diagnostics of mitochondrial disorders.

Abstract excerpt

The mitochondrial respiratory chain (RC) results from the expression of both mitochondrial and nuclear genes. The number of disease-causing mutations in nuclear genes is steadily growing and mitochondrial DNA (mtDNA) deletions and mutations account for no more than 15-20% of pediatric patients. Unfortunately, the disease-causing mutations have been identified for only a small number of patients. Thus, elucidating...

Topics

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

• Share to Benzoquinones
• Share to Electron Transport Complex I