Article
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
Human mutation - 1 Feb 2007
Rubio Juan C, Garcia-Consuegra Ines, Nogales-Gadea Gisela, Blazquez Alberto, Cabello Ana, Lucia Alejandro, Andreu Antoni L, Arenas Joaquin, Martin Miguel A
Abstract excerpt
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 55 Spanish unrelated patients with McArdle disease. Screening for the three more frequent mutations in the PYGM...
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