Genotypic and phenotypic features of McArdle disease: Insights from the Spanish national registry
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Ruiz, Jonatan R.
Nogales-Gadea, Gisela
Rubio, Juan Carlos
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Abstract
Published genotype/phenotype data on McArdle disease are limited in sample size. A single national (Spanish) registry of patients with McArdle disease was created with the purpose of analysing their genotypic and phenotypic characteristics.
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Bibliographic reference
Lucía-Mulas, A., Ruiz, J. R., Santalla, A., Nogales-Gadea, G., Rubio, J. C., García-Consuegra, I., ..., & Andreu, A. L. (2012). Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry. Journal of Neurology, Neurosurgery & Psychiatry, 83(3), 322-328.