| 1 | 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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| 2 | 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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| 3 | PYGM, GSD5B, GSD6A, GSD6B, PHKA2
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| Genetic deficiencies of the glycogen phosphorylase system.
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| Hendrickx J, Willems PJ.
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| Hum Genet 97(5):551-6. 1996
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| 4 | GSD5B
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| Dinucleotide repeat polymorphism within the PHKA1 gene at Xq12-q13.
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| Gossen M, et al.
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| Hum Genet 95 : 469-470. 1995
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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 | RPSAP14, GSD5B, RPS4X, XIST, DXS128E
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| 2.6 Mb YAC contig of the human X inactivation center region in Xq13 : physical linkage of the RPS4X, PHKA1, XIST and DXS128E genes.
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| Lafreni¸re RG, et al.
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| Hum Mol Genet 2 : 1105-1115. 1993
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| 7 | GSD5B, GSD8B
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| Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.
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| Francke U, Darras BT, Zander NF, Kilimann MW.
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| Am J Hum Genet 45 : 276-282. 1989
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| 8 | 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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| 9 | GSD5B
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| Type VI glycogenosis : Biochemical demonstration of liver phosphorylase deficiency.
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| Hug G, et al.
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| Biochem Biophys Res Commun 41 : 1178-1184. 1970
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| 10 | GSD5B
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| Glycogen-storage disease type VIa: low phosphorylase kinase activity caused by a low enzyme-substrate affinity.
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| Huijing F.
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| Biochim Biophys Acta 206 : 199-201. 1970
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