A Novel PHKA1 Mutation in a Patient with Glycogen Storage Disease Type IXD
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Kim, Hye Jin
(Department of Health Sciences and Technology, Samsung Advanced Institute for Health Science & Tech., Sungkyunkwan University)
Nam, Soo Hyun (Stem Cell & Regenerative Medicine Institute, Samsung Medical Center) Kim, Sang Beom (Department of Neurology, Kyung Hee University Hospital at Gangdong, Kyung Hee University School of Medicine) Chung, Ki Wha (Department of Biological Science, Kongju National University) Choi, Byung-Ok (Department of Health Sciences and Technology, Samsung Advanced Institute for Health Science & Tech., Sungkyunkwan University) |
1 | Bruno, C., Manfredi, G., Andreu, A. L., Shanske, S., Krishna, S., Ilse, W. K. and DiMauro, S. 1998. A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy. Biochem. Biophys. Res. Commun. 249, 648-651. DOI |
2 | Brushia, R. J. and Walsh, D. A. 1999. Phosphorylase kinase: the complexity of its regulation is reflected in the complexity of its structure. Front. Biosci. 4, D618-641. DOI |
3 | Burwinkel, B, Hu, B., Schroers, A., Clemens, P. R., Moses, S. W., Shin, Y. S., Pongratz, D., Vorgerd, M. and Kilimann, M. W. 2003. Muscle glycogenosis with low phosphorylase kinase activity: mutations in PHKA1, PHKG1 or six other candidate genes explain only a minority of cases. Eur. J. Hum. Genet. 11, 516-526. DOI |
4 | Burwinkel, B., Maichele, A. J, Aagenaes, O., Bakker, H. D., Lerner, A., Shin, Y. S., Strachan, J. A. and Kilimann, M. W. 1997. Autosomal glycogenosis of liver and muscle due to phosphorylase kinase deficiency is caused by mutations in the phosphorylase kinase beta subunit (PHKB). Hum. Mol. Genet. 6, 1109-1115. DOI |
5 | Choi, R., Park, H. D., Kang, B., Choi, S. Y., Ki, C. S., Lee, S. Y., Kim, J. W., Song, J. and Choe, Y. H. 2016. PHKA2 mutation spectrum in Korean patients with glycogen storage disease type IX: prevalence of deletion mutations. BMC. Med. Genet. 17, 33. |
6 | Clemens, P. R., Yamamoto, M. and Engel, A. G. 1990. Adult phosphorylase b kinase deficiency. Ann. Neurol. 28, 529-538. DOI |
7 | Dimachkie, M. M. and Barohn, R. J. 2014. Distal myopathies. Neurol. Clin. 32, 817-842. DOI |
8 | Hendrickx, J., Coucke, P., Dams, E., Lee, P., Odievre, M., Corbeel, L., Fernandes, J. F. and Willems, P. J. 1995. Mutations in the phosphorylase kinase gene PHKA2 are responsible for X-linked liver glycogen storage disease. Hum. Mol. Genet. 4, 77-83. DOI |
9 | Harding, A. E. and Thomas, P. K. 1980. The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103, 259-280. DOI |
10 | Harmann, B., Zander, N. F. and Kilimann, M. W. 1991. Isoform diversity of phosphorylase kinase alpha and beta subunits generated by alternative RNA splicing. J. Biol. Chem. 266, 15631-15637. DOI |
11 | Koller, M., Schnyder, B. and Strehler, E. E. 1990. Structural organization of the human CaMIII calmodulin gene. Biochim. Biophys. Acta. 1087, 180-189. DOI |
12 |
Maichele, A. J., Burwinkel, B., Maire, I., Sovik, O. and Kilimann, M. W. 1996. Mutations in the testis/liver isoform of the phosphorylase kinase |
13 | Mastaglia, F. L. and Laing, N. G. 1999. Distal myopathies: clinical and molecular diagnosis and classification. J. Neurol. Neurosurg. Psychiatry 67, 703-707. DOI |
14 | Orngreen, M. C., Schelhaas, H. J., Jeppesen, T. D., Akman, H. O., Wevers, R. A., Andersen, S. T., ter Laak, H. J., van Diggelen, O. P., DiMauro, S. and Vissing, J. 2008. Is muscle glycogenolysis impaired in X-linked phosphorylase B kinase deficiency? Neurology 70, 1876-1882. DOI |
15 | Pegues, J. C. and Friedberg, F. 1990. Multiple mRNAs encoding human calmodulin. Biochem. Biophys. Res. Commun. 172, 1145-1149. DOI |
16 | Wuyts, W., Reyniers, E., Ceuterick, C., Storm, K., de Barsy, T. and Martin, J. J. 2005. Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. Am. J. Med. Genet. A. 133A, 82-84. DOI |
17 | Echaniz-Laguna, A., Akman, H. O., Mohr, M., Tranchant, C., Talmant-Verbist, V., Rolland, M. O. and Dimauro, S. 2010. Muscle phosphorylase B kinase deficiency revisited. Neuromuscul. Disord. 20, 125-127. DOI |
18 | Schneider, A., Davidson, J. J., Wullrich, A. and Kilimann, M. W. 1993. Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform. Nat. Genet. 5, 381-385. DOI |
19 |
Wehner, M. and Kilimann, M. W. 1995. Human cDNA encoding the muscle isoform of the phosphorylase kinase |
20 | Wehner, M., Clemens, P. R., Engel, A. G. and Kilimann, M. W. 1994. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the alpha subunit. Hum. Mol. Genet. 3, 1983-1987. DOI |
21 | Preisler, N., Orngreen, M. C., Echaniz-Laguna, A., Laforet, P., Lonsdorfer-Wolf, E., Doutreleau, S., Geny, B., Akman, H. O., Dimauro, S. and Vissing, J. 2012. Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? Neurology 78, 265-268. DOI |
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