Listar por autor "Shanske, S."
Mostrando ítems 1-2 de 2
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Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families
Hadjigeorgiou, G. M.; Sadeh, M.; Musumeci, O.; Dabby, R.; De Girolami, L.; Naini, A.; Papadimitriou, A.; Shanske, S.; DiMauro, S. (2002)Using direct sequencing and restriction fragment length polymorphism analysis, we identified two novel mutations in two unrelated Yemenite-Jewish families with typical symptoms of McArdle's disease. In one family, both ... -
A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease
Hadjigeorgiou, G. M.; Papadimitriou, A.; Musumeci, O.; Paterakis, K.; Flabouriari, K.; Shanske, S.; DiMauro, S. (2002)We identified a novel stop codon mutation in the myophosphorylase gene in a Greek patient with typical symptoms of McArdle's disease. This is the first genetic study of myophosphorylase deficiency in a Greek family, showing ...