Article
McArdle's disease. The unsolved mystery of the reappearing enzyme.
The American journal of pathology - 1 Jun 1999
Martinuzzi A, Schievano G, Nascimbeni A, Fanin M
Abstract excerpt
We assessed the frequency of muscle fibers showing histochemical phosphorylase activity in 27 muscle biopsies from 25 unrelated patients with McArdle's disease and studied by immunohistochemistry and in situ hybridization whether the muscle-specific isoform was expressed. Positive phosphorylase fibers were observed in 19% of our series of biopsies. We show that the enzyme isoform expressed in regenerating fibers...
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