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  • Title: Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.
    Author: Wuyts W, Reyniers E, Ceuterick C, Storm K, de Barsy T, Martin JJ.
    Journal: Am J Med Genet A; 2005 Feb 15; 133A(1):82-4. PubMed ID: 15637709.
    Abstract:
    Phosphorylase kinase (PhK) deficiency is the underlying cause of variable clinical symptoms depending on the tissues involved. Until today, only a few cases of myopathy associated with muscle PhK deficiency caused by a mutation in the gene encoding the alpha subunit of phosphorylase kinase (PHKA1) have been reported. We describe a male patient with myopathy and absent muscle PhK activity caused by a frameshift mutation in the gene encoding the alpha subunit of PhK on chromosome Xq12-q13.
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