title: Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme.
abstract: A deficiency of human LIMP-2, a receptor for lysosomal mannose 6-phosphate-independent targeting of the beta-glucosidase (betaGC), due to mutations in the SCARB2 gene was described only in six families presented with progressive myoclonic epilepsy and nephrotic syndrome. In one of them a mistarget of the betaGC was demonstrated. We report here the biochemical and molecular findings in a patient diagnosed with progressive myoclonic epilepsy due to a mistarget of the betaGC, probably caused by a LIMP-2 deficiency, providing valuable information for the diagnosis of this rare disorder.
authors.affiliation: Regional Coordination Centre for Rare Diseases, University Hospital S. Maria della Misericordia, Piazzale Santa Maria della, 33100 Udine, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Dardis
authors.forename: Mirella
authors.initials: M
authors.lastname: Filocamo
authors.forename: Serena
authors.initials: S
authors.lastname: Grossi
authors.forename: Giovanni
authors.initials: G
authors.lastname: Ciana
authors.forename: Silvana
authors.initials: S
authors.lastname: Franceschetti
authors.forename: Silvia
authors.initials: S
authors.lastname: Dominissini
authors.forename: Guido
authors.initials: G
authors.lastname: Rubboli
authors.forename: Maya
authors.initials: M
authors.lastname: Di Rocco
authors.forename: Bruno
authors.initials: B
authors.lastname: Bembi
mesh_terms: D000328:Adult; D005260:Female; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics*; D051116:Receptors, Scavenger / Q000235:genetics*; D001617:beta-Glucosidase / Q000235:genetics*
chemical_list: D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human; D001617:beta-Glucosidase