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 differs according to the genotype of patients: the muscle-specific isoform is transcribed and translated in patients with none of the described mutations in at least one allele of the myophosphorylase gene, whereas it is neither transcribed nor translated in patients with identified mutations in both alleles.
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| http://dx.doi.org/10.1016/S0002-9440(10)65447-8 | DOI Listing |
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Article Synopsis
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- The study explored the experiences of 13 individuals with GSD5 through in-depth interviews, analyzing their challenges, diagnosis process, and coping strategies.
- Four main themes emerged, highlighting major difficulties in daily life, the importance of diagnosis for understanding their condition, management techniques like the ‘second wind’ phenomenon, and the crucial role of support networks for improving life quality.
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