Article
Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.
BMC genomics - 14 Nov 2017
Santalla Alfredo, Nogales-Gadea Gisela, Encinar Alberto Blázquez, Vieitez Irene, González-Quintana Adrian, Serrano-Lorenzo Pablo, Consuegra Inés García, Asensio Sara, Ballester-Lopez Alfonsina, Pintos-Morell Guillem, Coll-Cantí Jaume, Pareja-Galeano Helios, Díez-Bermejo Jorge, Pérez Margarita, Andreu Antoni L, Pinós Tomàs, Arenas Joaquín, Martín Miguel A, Lucia Alejandro
Abstract excerpt
BACKGROUND: We recently described the genotype/phenotype features of all Spanish patients diagnosed with McArdle disease as of January 2011 (n = 239, prevalence of ~1/167,000) (J Neurol Neurosurg Psychiatry 2012;83:322-8). Several caveats were however identified suggesting that the prevalence of the disease is actually higher. METHODS: We have now updated main genotype/phenotype data, as well as potential...
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