Article
Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.
Journal of neurology, neurosurgery, and psychiatry - 1 Mar 2012
Lucia Alejandro, Ruiz Jonatan R, Santalla Alfredo, Nogales-Gadea Gisela, Rubio Juan C, García-Consuegra Inés, Cabello Ana, Pérez Margarita, Teijeira Susana, Vieitez Irene, Navarro Carmen, Arenas Joaquín, Martin Miguel A, Andreu Antoni L
Abstract excerpt
BACKGROUND: 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. METHODS: A cross sectional study was conducted, collecting demographic, family history, clinical, genotype and functional capacity data from all patients diagnosed...
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