Phosphorylase kinase activity has been assayed in skin fibroblast cultures from a male affected with glycogen storage disease characterized by phosphorylase kinase deficiency, as well as those from his obligate heterozygous mother. The hemizygote had from 20% to 56% of the activity of normal fibroblasts, which is considerably higher than the activity found in his blood cells previously. The mother's uncloned fibroblasts had normal phosphorylase kinase activity. However, seven of the 46 single cell clones derived from heterozygous fibroblasts had activity within the mutant range. The bimodal distribution of maternal clones favors the hypothesis that this type of glycogen storage disease is X linked and that the locus involved is subject to X inactivation.
|Original language||English (US)|
|Number of pages||9|
|Journal||American journal of human genetics|
|State||Published - 1974|
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