Associated Papers
Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype.
Sánchez-Tejerina D et al.
Neurology, 2021
Missense mutations have unexpected consequences: The McArdle disease paradigm.
García-Consuegra I et al.
Human Mutation, 2018
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A et al.
Bmc Genomics, 2017
PYGM expression analysis in white blood cells: a complementary tool for diagnosing McArdle disease?
de Luna N et al.
Neuromuscular Disorders : Nmd, 2014
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.
Lucia A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
Rubio JC et al.
Human Mutation, 2007
Novel mutation in the PYGM gene resulting in McArdle disease.
Rubio JC et al.
Archives of Neurology, 2006
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