Associated Papers
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
Santalla A et al.
Bmc Genomics, 2017
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.
Lucia A et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2012
Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.
Vieitez I et al.
Neuromuscular Disorders : Nmd, 2011
Genotype modulators of clinical severity in McArdle disease.
Rubio JC et al.
Neuroscience Letters, 2007
A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.
Rubio JC et al.
Human Mutation, 2007
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