Mitochondrial DNA polymerase gamma catalytic subunit deficiency

(POLG deficiency)

Synonym(s)
- Mitochondrial DNA depletion syndrome type 1,
- mitochondrial recessive ataxia syndrome (MIRAS),
- arPEO type 1,
- adPEO type 1
Type

Disease
External link(s)
- IEMbase
Gene
- POLG / Polymerase Gamma, Catalytic Subunit
  15q26.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- DNA polymerase gamma catalytic subunit
Multimer
- DNA polymerase gamma
Disease group(s)
- 9.2 Disorders of mtDNA replication and maintenance
Child entries
- Alpers syndrome
- POLG-related progressive myoclonic epilepsy