Maximal Multistage Shuttle Run Test-induced Myalgia in a Patient with Muscle Phosphorylase B Kinase Deficiency.

Autor:	Munekane A; Department of Neurology, Kawasaki Medical School, Japan., Ohsawa Y; Department of Neurology, Kawasaki Medical School, Japan., Fukuda T; Department of Pediatrics, Hamamatsu University School of Medicine, Japan., Nishimura H; Department of Pathology, Kawasaki Medical School, Japan., Nishimatsu SI; Department of Natural Science, Kawasaki Medical School, Japan., Sugie H; Faculty of Health and Medical Science, Tokoha University, Japan., Saito Y; Department of Neuromuscular Research, National Institute of Neuroscience (NCNP), Japan., Nishino I; Department of Neuromuscular Research, National Institute of Neuroscience (NCNP), Japan., Sunada Y; Department of Neurology, Kawasaki Medical School, Japan.
Jazyk:	angličtina
Zdroj:	Internal medicine (Tokyo, Japan) [Intern Med] 2022 Apr 15; Vol. 61 (8), pp. 1241-1245. Date of Electronic Publication: 2021 Oct 05.
DOI:	10.2169/internalmedicine.8137-21
Abstrakt:	Muscle 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.
Databáze:	MEDLINE
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