Table 3

Phenotypes associated with polymerase gamma (POLG) mutations

Autosomal dominant PEO with or without parkinsonism
Autosomal recessive PEO with or without parkinsonism
Sporadic PEO
Cataracts
Alpers syndrome
Sensory ataxia, neuropathy, dysarthria, ophthalmoplegia (SANDO)
Mitochondrial recessive ataxia syndrome (MIRAS)
Spinocerebellar ataxia with epilepsy (SCAE)
Premature menopause
Male subfertility
Myoclonus epilepsy with ragged red fibres
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
  • A full list of genotype–phenotype correlations can be found in the online Human DNA Polymerase Gamma Mutation Database http://tools.niehs.nih.gov/polg/

  • PEO, progressive external ophthalmoplegia.