PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia

Abstract Muscle phosphorylase kinase deficiency results from X-linked pathogenic variants in PHKA1, leading to glycogen storage disease (GSD) type IXα1 (also known as GSD IXd). As part of an international collaboration, we describe 14 previously unreported cases (12 males, 2 females; ClinicalTrials....

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Κύριοι συγγραφείς:	Rebecca L. Koch, Angie H. Fares, Benjamin T. Cocanougher, Jamie Lim, Andrea B. Haijer-Schreuder, Terry G. J. Derks, Sarah C. Grünert, Reena Sharma, Karra A. Jones, Priya S. Kishnani
Μορφή:	Artigo
Γλώσσα:	Inglês
Έκδοση:	Nature Portfolio 2025-11-01
Σειρά:	npj Genomic Medicine
Διαθέσιμο Online:	https://doi.org/10.1038/s41525-025-00527-y
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