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Phenotype modulators in myophosphorylase deficiency

✍ Scribed by Andrea Martinuzzi; Elena Sartori; Marina Fanin; Annachiara Nascimbeni; Lucia Valente; Corrado Angelini; Gabriele Siciliano; Tiziana Mongini; Paola Tonin; Giuliano Tomelleri; Antonio Toscano; Luciano Merlini; Laurence A. Bindoff; Stefano Bertelli


Publisher
John Wiley and Sons
Year
2003
Tongue
English
Weight
151 KB
Volume
53
Category
Article
ISSN
0364-5134

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McArdle disease is a metabolic myopathy due to molecular defects in the myophosphorylase gene (PYGM), usually diagnosed in muscle biopsy. The aims of this study were to characterize genetically a large series of patients and to establish a protocol of molecular diagnosis on blood samples. We studied