Glycogen storage disease of heart is an autosomal dominant disorder of glycogen metabolism. This disease is caused by mutations in the PRKAG2 gene, which encodes gamma-2 subunit of AMPK. It is characterized by fatal infantile cardiomyopathy, often associated with apparent phosphorylase b kinase deficiency.
Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW
タイトル
Fatal congenital heart glycogenosis caused by a recurrent activating R531Q mutation in the gamma 2-subunit of AMP-activated protein kinase (PRKAG2), not by phosphorylase kinase deficiency.
