OnlineIMD

9.2        Disorders of mtDNA replication and maintenance

  • Type
    Group
  • Disease group(s)
    • 9         Disorders of mitochondrial DNA maintenance and replication
  • Child entries
    • Mitochondrial DNA polymerase gamma catalytic subunit deficiency
    • Mitochondrial DNA polymerase gamma accessory subunit deficiency
    • TWINKLE mitochondrial DNA helicase deficiency
    • Single-stranded DNA-binding protein 1 deficiency
    • DNA2 helicase deficiency
    • Mitochondrial genome maintenance exonuclease 1 deficiency
    • Mitochondrial ribonuclease H1 deficiency
    • Topoisomerase 3 alpha deficiency