Defects of mitochondrial polymerase gamma (POLG) have been found to underlie neurological diseases ranging from myopathies to parkinsonism and infantile Alpers syndrome.
autosomal dominant progressive external ophthalmoplegia type A1 (autosomal dominant PEOA1) (MIM.157640)
sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) (MIM.607459)
Alpers syndrome (MIM.203700)