Low-level Large Deletions in Mitochondrial Genome: A Potential Diagnosis of Mitochondrial Diseases

Large deletions in the mitochondrial genome are a significant contributor to mitochondrial diseases. The proportion of mitochondrial DNA (mtDNA) carrying these large deletions is a critical factor in determining phenotype and clinical outcomes. In this retrospective study, we aim to explore low-level large deletions in young patients that may contribute to mitochondrial diseases.