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
Author:
Barbara Burwinkel,John W. Scott,Christoph Bührer,Frank K.H. van Landeghem,Gerald F. Cox,Callum J. Wilson,D. Grahame Hardie,Manfred W. Kilimann
Publication:
The American Journal of Human Genetics
Copyright © 2005 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.