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Clinical and laboratory features of patients with myophosphorylase deficiency (McArdle disease)

✍ Scribed by F. Miteff; H.C. Potter; J. Allen; H. Teoh; R. Roxburgh; D.O. Hutchinson


Book ID
116676057
Publisher
Elsevier Science
Year
2011
Tongue
English
Weight
345 KB
Volume
18
Category
Article
ISSN
0967-5868

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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