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

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

Abstract 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 prevalenc...

Full description

Bibliographic Details
Main Authors: Alfredo Santalla, Gisela Nogales-Gadea, Alberto Blázquez Encinar, Irene Vieitez, Adrian González-Quintana, Pablo Serrano-Lorenzo, Inés García Consuegra, Sara Asensio, Alfonsina Ballester-Lopez, Guillem Pintos-Morell, Jaume Coll-Cantí, Helios Pareja-Galeano, Jorge Díez-Bermejo, Margarita Pérez, Antoni L. Andreu, Tomàs Pinós, Joaquín Arenas, Miguel A. Martín, Alejandro Lucia
Format: Article
Language:English
Published: BMC 2017-11-01
Series:BMC Genomics
Subjects:
McArdle disease
Spanish patients
Genotype
Phenotype
Glycogenosis type V
Online Access:http://link.springer.com/article/10.1186/s12864-017-4188-2

Internet

http://link.springer.com/article/10.1186/s12864-017-4188-2

Similar Items