" /> Glycogen storage disease of heart, lethal congenital - CISMeF





Preferred Label : Glycogen storage disease of heart, lethal congenital;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Phosphorylase kinase deficiency of heart; Glycogen storage disease of heart;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the protein kinase, AMP-activated, noncatalytic, gamma-2 gene (PRKAG2, 602743.0007);

Prefixed ID : #261740;

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29/04/2025


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