OnlineIMD

Mitochondrial demyelinating neuropathy

  • Type
    Phenotype
  • Associated genes
    Gene list
    • TYMP Thymidine phosphorylase deficiency
    • RRM2B Mitochondrial ribonucleotide reductase small subunit deficiency
    • POLG Mitochondrial DNA polymerase gamma catalytic subunit deficiency
    • ETHE1 Ethylmalonic encephalopathy
  • Parent entry
    • Mitochondrial peripheral neuropathy