AB105. Novel large mitochondrial DNA deletions in pediatric patients with clinical features of mitochondrial disorders

Background and objectiveSo far, over 100 large mitochondrial DNA (mtDNA) deletions have been identified. Those large deletions can lead to a broad spectrum of clinical features including mild mitochondrial myopathies (MM), progressive external ophthalmoplegia (PEO), Kearns-Sayre syndrome (KSS) and Pearson syndrome (PS). Pediatric patients have been paid much attention because mitochondrial disorders in children are diverse and many clinical features are difficult to distinguish. The study aims to investigate the large mtDNA deletions in the Vietnamese pediatric patients with clinical features of mitochondrial disorders.