Phosphorylase kinase deficiency in I−strain mice is associated with a frameshift mutation in the subunit muscle isoform

Heritable phosphorylase kinase (Phk) deficiency underlies a group of glycogenoses in humans, mice and rats that differ in mode of inheritance and tissue−specificity. It is assumed that this heterogeneity is caused by mutations affecting different subunits and isoforms of Phk. As the first Phk deficiency mutation to be identified, we report a single−nucleotide insertion in the coding sequence of the Phk subunit muscle isoform of the I−strain mouse. This mutation accounts for the virtually complete enzymatic deficiency, the tissue specificity and the X−linked mode of inheritance in this mutant.

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