Mild-cerebellar ataxia due to impaired mitochondrial function caused by the MSTO1 variations

Background: are linked to a rare mitochondrial disorder characterized by early-onset myopathy and cerebellar ataxia, with 31 cases reported globally to date, which underscores its exceptional rarity. Methods: variants. Results: mutation revealed notable differences in the severity of mitochondrial dysfunction, suggesting potential genotype-phenotype correlations. Conclusion: -related mitochondrial disorders.