A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

@article{Rubio2007APM,
  title={A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.},
  author={Juan C. Rubio and In{\'e}s Garc{\'i}a-Consuegra and Gisela Nogales-Gadea and Alberto Bl{\'a}zquez and A. Mara{\~n}on Cabello and Alejandro Lucia and Antoni L. Andreu and J. Olier Arenas and Miguel Angel Mart{\'i}n},
  journal={Human mutation},
  year={2007},
  volume={28 2},
  pages={203-4}
}
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 gene in the Spanish population (c.148C>T, p.R50X; c.613G>A, p.G205S; and c.2392T>C, p… CONTINUE READING