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Maximal multistage shuttle run test-induced myalgia in a patient with muscle phosphorylase B kinase deficiency. Intern Med 2022; 61: 1241\u20135.","DOI":"10.2169\/internalmedicine.8137-21"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2) Burwinkel B, Hu B, Schroers A, et al. Muscle glycogenosis with low phosphorylase kinase activity: mutations in <i>PHKA1<\/i>, <i>PHKG1<\/i> or six other candidate genes explain only a minority of cases. Eur J Hum Genet 2003; 11: 516\u201326.","DOI":"10.1038\/sj.ejhg.5200996"},{"key":"3","doi-asserted-by":"crossref","unstructured":"3) Bruno C, Manfredi G, Andreu AL, et al. A splice junction mutation in the \u03b1<sub>M<\/sub>gene of phosphorylase kinase in a patient with myopathy. Biochem Biophys Res Commun 1998; 249: 648\u201351.","DOI":"10.1006\/bbrc.1998.9211"},{"key":"4","doi-asserted-by":"crossref","unstructured":"4) Wehner M, Clemens PR, Engel AG, et al. Human muscle glycogenosis due to phosphorylase kinase deficiency associated with a nonsense mutation in the muscle isoform of the \u03b1 subunit. Hum Mol Genet 1994; 3: 1983\u20137.","DOI":"10.1093\/hmg\/3.11.1983"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5) Wuyts W, Reyniers E, Ceuterick C, et al. Myopathy and phosphorylase kinase deficiency caused by a mutation in the <i>PHKA1<\/i> gene. Am J Med Genet A 2005; 133a: 82\u20134.","DOI":"10.1002\/ajmg.a.30517"},{"key":"6","doi-asserted-by":"crossref","unstructured":"6) \u00d8rngreen MC, Schelhaas HJ, Jeppesen TD, et al. Is muscle glycogenolysis impaired in X-linked phosphorylase <i>b<\/i> kinase deficiency? Neurology 2008; 70: 1876\u201382.","DOI":"10.1212\/01.wnl.0000289190.66955.67"},{"key":"7","doi-asserted-by":"crossref","unstructured":"7) Echaniz-Laguna A, Akman HO, Mohr M, et al. Muscle phosphorylase <i>b<\/i> kinase deficiency revisited. 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Neuromuscul Disord 2020; 30: 562\u20135.","DOI":"10.1016\/j.nmd.2020.06.006"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11) Bisciglia M, Froissart R, Bedat-Millet AL, et al. A novel PHKA1 mutation associating myopathy and cognitive impairment: expanding the spectrum of phosphorylase kinase b (PhK) deficiency. J Neurol Sci 2021; 424: 117391.","DOI":"10.1016\/j.jns.2021.117391"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12) Huang K, Duan HQ, Li QX, et al. Expanding the clinicopathological-genetic spectrum of glycogen storage disease type IXd by a Chinese neuromuscular center. Front Neurol 2022; 13: 945280.","DOI":"10.3389\/fneur.2022.945280"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13) Mori-Yoshimura M, Aizawa K, Oya Y, et al. A 78-year-old Japanese male with late-onset <i>PHKA1<\/i>-associated distal myopathy: case report and literature review. Neuromuscul Disord 2022; 32: 769\u201373.","DOI":"10.1016\/j.nmd.2022.05.010"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14) Wang CC, Yang B, Liu Y, et al. Novel PHKA1 mutation in glycogen storage disease type IXD with typical myotonic discharges. CNS Neurosci Ther 2022; 28: 1895\u20137.","DOI":"10.1111\/cns.13939"},{"key":"15","unstructured":"15) Picillo E, Onore ME, Passamano L, et al. A rare co-occurrence of phosphorylase kinase deficiency (GSD type IXd) and alpha-glycosidase deficiency (GSD Type II) in a 53-year-old man presenting with an atypical glycogen storage disease phenotype. Asta Myologica 2024; 43: 21\u20136."},{"key":"16","unstructured":"16) Herbert M, Goldstein JL, Rehder C, et al. Phosphorylase Kinase Deficiency. In: Adam MP, Feldman J, Mirzaa GM, et al. eds., GeneReviews. Seattle (WA): University of Washington; 2011 (updated 2018)."},{"key":"17","doi-asserted-by":"crossref","unstructured":"17) Hayakawa S, Hayakawa T, Watanabe K, et al. Evaluation of long- term chronic pain and outcomes for unilateral vs bilateral circular incision transabdominal preperitoneal inguinal hernia repair. 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