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Case Reports
Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.
- Asami Munekane, Yutaka Ohsawa, Tokiko Fukuda, Hirotake Nishimura, Shin-Ichiro Nishimatsu, Hideo Sugie, Yoshihiko Saito, Ichizo Nishino, and Yoshihide Sunada.
- Department of Neurology, Kawasaki Medical School, Japan.
- Intern. Med. 2022 Apr 15; 61 (8): 124112451241-1245.
AbstractMuscle phosphorylase b kinase (PHK) deficiency is a rare mild metabolic disorder caused by mutations of the PHKA1 gene encoding the αM subunit of PHK. A 16-year-old boy experienced myalgia during the maximal multistage 20-m shuttle run test targeting the maximal oxygen consumption. Although an ischemic forearm exercise test was normal, a muscle biopsy revealed subsarcolemmal glycogen accumulation. He harbored a novel insertion mutation in the PHKA1 gene that resulted in premature termination of the αM subunit close to the C-terminus. Compared with previously reported cases, his reduction in PHK activity was relatively mild.
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