MPV17 deficiency

Synonym(s)
- Mitochondrial DNA depletion syndrome type 6
Type

Disease
External link(s)
- IEMbase
Gene
- MPV17 / MtDNA Maintenance Defect Associated Protein
  2p23.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Mitochondrial inner membrane protein MPV17
Disease group(s)
- 9.1 Disorders of mitochondrial nucleotide pool maintenance