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.