A PTG Variant Contributes to a Milder Phenotype in Lafora Disease

Lafora disease is an autosomal recessive form of progressive myoclonus epilepsy with no effective therapy. Although the outcome is always unfavorable, onset of symptoms and progression of the disease may vary. We aimed to identify modifier genes that may contribute to the clinical course of Lafora d...

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Detalles Bibliográficos
Autores principales: Guerrero, Rosa, Vernia, Santiago, Sanz, Raúl, Abreu-Rodríguez, Irene, Almaraz, Carmen, García-Hoyos, María, Michelucci, Roberto, Tassinari, Carlo Alberto, Riguzzi, Patrizia, Nobile, Carlo, Sanz, Pascual, Serratosa, José M., Gómez-Garre, Pilar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2011
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3127956/
https://www.ncbi.nlm.nih.gov/pubmed/21738631
http://dx.doi.org/10.1371/journal.pone.0021294

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