Article
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.
American journal of human genetics - 1 Jun 2005
Burwinkel Barbara, Scott John W, Bührer Christoph, van Landeghem Frank K H, Cox Gerald F, Wilson Callum J, Grahame Hardie D, Kilimann Manfred W
Abstract excerpt
Fatal congenital nonlysosomal cardiac glycogenosis has been attributed to a subtype of phosphorylase kinase deficiency, but the underlying genes and mutations have not been identified. Analyzing four sporadic, unrelated patients, we found no mutations either in the eight genes encoding phosphorylase kinase subunits or in the two genes encoding the muscle and brain isoforms of glycogen phosphorylase. However, in...
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