| 1 | GBE1, NFE2L2, PHKA1
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| Nrf2-Mediated Regulation of Skeletal Muscle Glycogen Metabolism.
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| Uruno A, Yagishita Y, Katsuoka F, Kitajima Y, Nunomiya A, Nagatomi R, Pi J, Biswal SS, Yamamoto M.
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| Mol Cell Biol 36(11):1655-72. doi: 10.1128/MCB.01095-15. 2016
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| 2 | GSD5B, PHKA1, PHKG1, PHKB
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| Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases.
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| Burwinkel, B.; Hu, B.; Schroers, A.; Clemens, P. R.; Moses, S. W.; Shin, Y. S.; Pongratz, D.; Vorgerd, M.; Kilimann, M. W.
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| Eur. J. Hum. Gen. 11(7):516-526. 2003
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| 3 | PHKB, PHKA1
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| Glucoamylase-like domains in the alpha- and beta-subunits of phosphorylase kinase.
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| Pallen MJ.
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| Protein Sci 12(8):1804-7. 2003
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| 4 | GSD5B, PHKA1
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| A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.
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| Bruno C, et al.
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| Biochem Biophys Res Commun 249 : 648-651. 1998
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| 5 | GSD5B, PHKA1
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| Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit.
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| Wehner M, et al.
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| Hum Mol Genet 3 : 1983-1987. 1994
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| 6 | GSD5B, PHKA1
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| Glycogen-storage disease associated with phosphorylase kinase deficiency: evidence for X-inactivation.
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| Migeon BR, et al.
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| Am J Hum Genet 26 : 360-368. 1974
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