Publication | Open Access

Fatal Congenital Heart Glycogenosis Caused by a Recurrent Activating R531Q Mutation in the γ2-Subunit of AMP-Activated Protein Kinase (PRKAG2), Not by Phosphorylase Kinase Deficiency

Phosphorylase Kinase DeficiencyCardiomyopathyAmp-activated Protein KinaseInherited Metabolic DiseasePathologyCongenital Heart DefectMedicineCell BiologyMolecular Medicine