We analyzed leukocyte DNA of 19 patients from 12 Spanish families with McArdle's disease (myophosphorylase deficiency). In 15 patients, the enzyme defect was documented histochemically in muscle, and in four the diagnosis was based on clinical and laboratory data. Three patients were homozygous and six were heterozygous for the nonsense mutation at codon 49 (R49X). Our findings indicate that the R49X mutation, which is common in English and American patients, is also present in Spanish patients with McArdle's disease, but at a lower frequency.
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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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