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

Author:

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

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference22 articles.

1. Phosphorylase Kinase Deficiency;Herbert,2011

2. BergerR. Phosphorylase b kinase deficiency in man: a review;Van den Berg;J. Inherit. Metab. Dis.,1990

3. Assignment of human genes for phosphorylase kinase subunits α (PHKA) to Xq12–q13 and β (PHKB) to 16q12–q13;Francke;Am. J. Hum. Genet.,1989

4. cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-2p22.1, the region of human X-linked liver glycogenosis;Davidson;Proc. Natl. Acad. Sci. U. S. A.,1992

5. A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy;Bruno;Biochem. Biophys. Res. Commun.,1998

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