Ruen Yao

Clinical characteristics and influencing factors of children with MT-TL1 gene m.3243 A > G mutation: a phenotypic study based on 11 Han Chinese patients

The m.3243 A > G mutation in the MT-TL1 gene is one of the most common mitochondrial DNA variants, associated with a broad range of clinical phenotypes. While its manifestations in adults have been widely reported, data on pediatric presentations remain limited, particularly in A...