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


Barbara Burwinkel,John W. Scott,Christoph Bührer,Frank K.H. van Landeghem,Gerald F. Cox,Callum J. Wilson,D. Grahame Hardie,Manfred W. Kilimann


The American Journal of Human Genetics




June 2005

Copyright © 2005, Elsevier

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