RecName: Full=Phosphorylase b kinase regulatory subunit alpha, skeleta - Protein

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A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency. [J Neurol Sci. 2021]
A novel PHKA1 mutation associating myopathy and cognitive impairment: Expanding the spectrum of phosphorylase kinase b (PhK) deficiency.
Bisciglia M, Froissart R, Bedat-Millet AL, Romero NB, Pettazzoni M, Hogrel JY, Petit FM, Stojkovic T. J Neurol Sci. 2021 May 15; 424:117391. Epub 2021 Mar 18.
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease? [Neurology. 2012]
Muscle phosphorylase kinase deficiency: a neutral metabolic variant or a disease?
Preisler N, Orngreen MC, Echaniz-Laguna A, Laforet P, Lonsdorfer-Wolf E, Doutreleau S, Geny B, Akman HO, Dimauro S, Vissing J. Neurology. 2012 Jan 24; 78(4):265-8. Epub 2012 Jan 11.
Muscle phosphorylase b kinase deficiency revisited. [Neuromuscul Disord. 2010]
Muscle phosphorylase b kinase deficiency revisited.
Echaniz-Laguna A, Akman HO, Mohr M, Tranchant C, Talmant-Verbist V, Rolland MO, Dimauro S. Neuromuscul Disord. 2010 Feb; 20(2):125-7. Epub 2010 Jan 18.

RefSeq genomic sequence
See the genomic reference sequence for the PHKA1 gene (NG_016599.2).
RefSeq protein isoforms
See 12 reference sequence protein isoforms for the PHKA1 gene.

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P46020 [Domain Mapping of Disease Mut...]
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