Disorders
PHKA1-Related Phosphorylase Kinase Deficiency
Synonym(s): Glycogen Storage Disease Type IXd, PHKA1-Related Glycogen Storage Disease Type IX
| Gene | Locus | Protein |
|---|---|---|
| PHKA1 | Xq12-q13 | Phosphorylase b kinase regulatory subunit alpha, skeletal muscle isoform |





