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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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

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.[1]

References

  1. Myopathy and phosphorylase kinase deficiency caused by a mutation in the PHKA1 gene. Wuyts, W., Reyniers, E., Ceuterick, C., Storm, K., de Barsy, T., Martin, J.J. Am. J. Med. Genet. A (2005) [Pubmed]
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