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Am J Med Genet A. 2005 Feb 15;133A(1):82-4.

Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene.

Author information

1
Department of Medical Genetics, University of Antwerp, Antwerp, Belgium. wim.wuyts@ua.ac.be

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.

PMID:
15637709
DOI:
10.1002/ajmg.a.30517
[Indexed for MEDLINE]

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