PNPLA8 deficiency

Synonym(s)
- Mitochondrial myopathy with lactic acidosis
Type

Disease
External link(s)
- IEMbase
Gene
- PNPLA8 / patatin like phospholipase domain containing 8
  7q31.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Patatin-like phospholipase domain-containing protein 8
Disease group(s)
- 19.1 Disorders of mitochondrial membrane biogenesis and remodeling