Quality of life, fatigue and mental health in patients with the m.3243A？>？G mutation and its correlates with genetic characteristics and disease manifestation

Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A？>？G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies showed little relationship between mitochondrial genetics and disease manifestation. Relationship between genotype and disease manifestation with patient reported quality of life and other patient reported outcomes is still unexplored