Ontology highlight
ABSTRACT:
SUBMITTER: Rubio-Villena C
PROVIDER: S-EPMC6059194 | biostudies-literature | 2018 Apr
REPOSITORIES: biostudies-literature
Rubio-Villena Carla C Viana Rosa R Bonet Jose J Garcia-Gimeno Maria Adelaida MA Casado Marta M Heredia Miguel M Sanz Pascual P
Human molecular genetics 20180401 7
Lafora disease (LD) is a fatal form of progressive myoclonus epilepsy characterized by the accumulation of insoluble poorly branched glycogen-like inclusions named Lafora bodies (LBs) in the brain and peripheral tissues. In the brain, since its first discovery in 1911, it was assumed that these glycogen inclusions were only present in affected neurons. Mouse models of LD have been obtained recently, and we and others have been able to report the accumulation of glycogen inclusions in the brain o ...[more]