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-Reference-Cited by-同舟云学术

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

Published:2005-06 Issue:6 Volume:76 Page:1034-1049
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

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

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference58 articles.

1. The nature and mechanisms of human gene mutation;Antonarakis,2001

2. Constitutively active AMP kinase mutations cause glycogen storage disease mimicking hypertrophic cardiomyopathy;Arad;J Clin Invest,2002

3. Glycogen storage diseases presenting as hypertrophic cardiomyopathy;Arad;N Engl J Med,2005

4. Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy;Arad;Circulation,2003

5. The 5′-AMP-activated protein kinase γ3 isoform has a key role in carbohydrate and lipid metabolism in glycolytic skeletal muscle;Barnes;J Biol Chem,2004

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