Brain atrophy in a patient with mitochondrial DNA G8363A mutation

摘要

Mitochondrial diseases are a common group of human genetic diseases that can occur at any decade of life. Mitochondrial DNA (mtDNA) mutations are responsible for most adult-onset mitochondrial diseases. There are over 260 known pathogenic mutations in mtDNA. In the last two decades, a large number of pathogenic mutations of mtDNA have been reported, which associate with a wide spectrum of clinical features.