Cardiac phosphorylase kinase deficiency

Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PRKAG2 / Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2
  7q36.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- PRKAG2 protein
Pathway
- Glycogen metabolism
Disease group(s)
- 3.4.3 Muscle glycogenoses