Mutations in α subunits result in pediatric- and juvenile-onset presentations such as Alpers–Huttenlocher syndrome (severe infantile-onset encephalopathy with epilepsy associated with hepatic failure), SANDO (sensory ataxic neuropathy, dysarthria and ophthalmoplegia) and MIRAS (mitochondrial recessive ataxia syndrome) [42]. Here, POLG is linked to recessive mitochondrial ataxia syndrome.