A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency
M. Bisciglia, Roseline Froissart, Anne Laure Bedat-Millet, Norma B. Romero, Magali Pettazzoni, Jean‐Yves Hogrel, François Petit, Tanya Stojkovic
Topics & Concepts
MyoglobinuriaPhosphorylase kinaseMyopathyExercise intoleranceMuscle crampGlycogen phosphorylaseGlycogen storage diseaseEndocrinologyGeneticsGlycogenInternal medicineMedicineBiologyRhabdomyolysisHeart failureGlycogen Storage Diseases and MyoclonusLysosomal Storage Disorders ResearchGenetics and Neurodevelopmental Disorders