Genetics of Lafora progressive myoclonic epilepsy: current perspectives

Lafora disease (LD) is a fatal neurodegenerative disorder caused by loss-of-function mutations in either laforin glycogen phosphatase gene (EPM2A) or malin E3 ubiquitin ligase gene (NHLRC1). LD is associated with gradual accumulation of Lafora bodies (LBs). LBs are aggregates of polyglucosan, a long...

Description complète

Enregistré dans:
Détails bibliographiques
Publié dans:Appl Clin Genet
Auteurs principaux: Kecmanović, Miljana, Keckarević-Marković, Milica, Keckarević, Dušan, Stevanović, Galina, Jović, Nebojša, Romac, Stanka
Format: Artigo
Langue:Inglês
Publié: Dove Medical Press 2016
Sujets:
Review
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4859416/
https://ncbi.nlm.nih.gov/pubmed/27194917
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2147/TACG.S57890
Tags: Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!

Documents similaires