Table 2 |.

Common POLG-related disorders

Age of onset	Syndrome	Mitochondrial DNA defect
Neonatal or Infancy	Myocerebrohepatopathy spectrum (MCHS)	Depletion
Infancy or childhood	Alpers-Huttenlocher syndrome (AHS)	Depletion
Adolescent or young adult	Ataxia neuropathy spectrum (ANS) including mitochondrial recessive ataxia syndrome (MIRAS) and sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)	Deletions
	Myoclonic epilepsy myopathy sensory ataxia (MEMSA) including mitochondrial spinocerebellar ataxia with epilepsy (SCAE)	Deletions
	Progressive external ophthalmoplegia (PEO) with or without sensory ataxia neuropathy dysarthria and ophthalmoplegia (SANDO)	Deletions