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