1.09.b
Disorders of mtDNA replication and maintenance
- Mitochondrial DNA polymerase gamma catalytic subunit deficiency (Mitochondrial DNA depletion syndrome type 1; Alpers-Huttenlocher syndrome; mitochondrial recessive ataxia syndrome – MIRAS; arPEO type 1; adPEO type 1)
- Mitochondrial DNA polymerase gamma accessory subunit deficiency (adPEO with mitochondrial DNA deletions type 4)
- TWINKLE mitochondrial DNA helicase deficiency (Mitochondrial DNA depletion syndrome type 7; Perrault syndrome type 5; arPEO with mitochondrial DNA deletions type 5)
- Single-stranded DNA-binding protein 1 deficiency (Optic atrophy type 13 with retinal and foveal abnormalities)
- DNA2 helicase deficiency (adPEO with mitochondrial DNA deletions type 6)
- Mitochondrial genome maintenance exonuclease 1Â deficiency (Mitochondrial DNA depletion syndrome type 11)
- Mitochondrial ribonuclease H1 deficiency (arPEO with mitochondrial DNA deletions type 2)
- Topoisomerase 3 alpha deficiency (arPEO with mitochondrial DNA deletions type 5)
