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This retrospective observational study is a longitudinal analysis of the neuroimaging pattern of single large-scale mitochondrial deletion syndrome, which is often classified into 3 major clinical syndromes: Kearns-Sayre syndrome, chronic progressive external ophthalmoplegia, and Pearson syndrome. Early findings typically involve the brainstem and basal ganglia with the supratentorial subcortical white matter changes and spinal cord involvement as the disease progresses.