Human genes for lethal congenital glycogen storage disease of heart
Lethal congenital glycogen storage disease of heart [DOID:0090101]
A glycogen storage disease characterized by glycogenosis confined to the heart, hypoglycemia and cyanosis, and has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the gene encoding the noncatalytic gamma-2 subunit of AMP-activated protein kinase (PRKAG2) on chromosome 7q36.
Synonyms: lethal congenital glycogen storage disease of heart, DOID:0090101, lethal congenital glycogen storage disease of hearts, fatal congenital hypertrophic cardiomyopathy due to glycogenosis, fatal congenital hypertrophic cardiomyopathy due to GSD ...