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Article

A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.

Journal of the neurological sciences - 15 May 2021

Bisciglia Michela, Froissart Roseline, Bedat-Millet Anne Laure, Romero Norma Beatriz, Pettazzoni Magali, Hogrel Jean-Yves, Petit François M, Stojkovic Tanya

Abstract excerpt

Muscle phosphorylase kinase b deficiency (PhK) is a rare disorder of glycogen metabolism characterized by exercise-induced myalgia and cramps, myoglobinuria and progressive muscle weakness. PhK deficiency is due to mutations in the PHKA1 gene inherited in an X-linked manner and is associated to glycogenosis type VIII (GSD VIII also called GSD IXd). PHKA1 gene codes for the αM subunit of the PhK, a multimeric...

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Cognitive Dysfunction
Glycogen Storage Disease
Muscular Diseases
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 33799212
DOI: 10.1016/j.jns.2021.117391

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A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.PMID 33799212Read ↗

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