TWINKLE mitochondrial DNA helicase deficiency

Synonym(s)
- Mitochondrial DNA depletion syndrome type 7,
- Perrault syndrome type 5,
- arPEO with mitochondrial DNA deletions type 5
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- TWNK / TWINKLE Mitochondrial DNA Helicase
  10q24.31
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Twinkle mitochondrial DNA helicase
Disease group(s)
- 9.2 Disorders of mtDNA replication and maintenance