Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update

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...

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Publicado en:BMC Genomics
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: BioMed Central 2017
Materias:
Research
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC5688471/
https://ncbi.nlm.nih.gov/pubmed/29143597
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12864-017-4188-2
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