Associated Papers
Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.
Pizzamiglio C et al.
Journal of Inherited Metabolic Disease, 2021
Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.
Wu Y et al.
Molecular Genetics and Metabolism, 2011
High-resolution melting facilitates mutation screening of PYGM in patients with McArdle disease.
Duno M et al.
Annals of Human Genetics, 2009
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