Parcourir par sujet "McArdle's disease"
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Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families
(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
(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 ...