Near identical segregation of mtDNA heteroplasmy in blood muscle urinary epithelium and hair follicles in twins with optic atrophy ptosis and intractable epilepsy

摘要

ImportanceMitochondrial DNA (mtDNA) disorders have emerged as major cause of inherited neurological disease. Despite being well recognized for over two decades, the clinical presentation continues to broaden. The phenotypic heterogeneity is partly due to different percentage levels of mutant mtDNA heteroplasmy in different tissues, but the factors influencing this are poorly understood.