POLG
DNA polymerase gamma, catalytic subunit
Ассоциированные заболевания
Герминативная мутация (причина)7
Alpers-Huttenlocher syndromeORPHA:726
→Autosomal recessive progressive external ophthalmoplegiaORPHA:254886
→Spinocerebellar ataxia with epilepsyORPHA:254881
→Autosomal dominant progressive external ophthalmoplegiaORPHA:254892
→Mitochondrial neurogastrointestinal encephalomyopathyORPHA:298
→Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndromeORPHA:70595
→Recessive mitochondrial ataxia syndromeORPHA:94125
→Ген-кандидат1