Citations for
1GSDH, PRKAG2, WPW
Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.
Kelly BP, Russell MW, Hennessy JR, Ensing GJ.
Pediatr Cardiol 30(8):1176-9. 2009
2GSDH,PRKAG2
A PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia.
Banerjee SK, Ramani R, Saba S, Rager J, Tian R, Mathier MA, Ahmad F.
Biochem Biophys Res Commun 360(2):381-7. Epub 2007 Jun 19. 2007
3PRKAG2, GSDh
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
Akman HO, Sampayo JN, Ross FA, Scott JW, Wilson G, Benson L, Bruno C, Shanske S, Hardie DG, Dimauro S.
Pediatr Res 62(4):499-504. 2007
4PRKAG2, GSDH
A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.
LaforÉt P, Richard P, Said MA, Romero NB, Lacene E, Leroy JP, Baussan C, Hogrel JY, Lavergne T, Wahbi K, Hainque B, Duboc D.
Neuromuscul Disord 16(3):178-82. Epub 2006 Feb 17. 2006
5PRKAG2, GSDH
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.
Burwinkel B, Scott JW, Buhrer C, van Landeghem FK, Cox GF, Wilson CJ, Grahame Hardie D, Kilimann MW.
Am J Hum Genet 76(6):1034-49. Epub 2005 May 2. 2005
6GSDH, PRKAG2
Transgenic mice overexpressing mutant PRKAG2 define the cause of Wolff-Parkinson-White syndrome in glycogen storage cardiomyopathy.
Arad M, Moskowitz IP, Patel VV, Ahmad F, Perez-Atayde AR, Sawyer DB, Walter M, Li GH, Burgon PG, Maguire CT, Stapleton D, Schmitt JP, Guo XX, Pizard A, Kupershmidt S, Roden DM, Berul CI, Seidman CE, Seidman JG.
Circulation 107(22):2850-6. Epub 2003 Jun 2. 2003