title: A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
authors.forename: Rosa
authors.initials: R
authors.lastname: Guerrero-López
authors.forename: Pedro J
authors.initials: PJ
authors.lastname: García-Ruiz
authors.forename: Beatriz G
authors.initials: BG
authors.lastname: Giráldez
authors.forename: Carmen
authors.initials: C
authors.lastname: Durán-Herrera
authors.forename: Maria Rosa
authors.initials: MR
authors.lastname: Querol-Pascual
authors.forename: José María
authors.initials: JM
authors.lastname: Ramírez-Moreno
authors.forename: Sebastián
authors.initials: S
authors.lastname: Más
authors.forename: José M
authors.initials: JM
authors.lastname: Serratosa
mesh_terms: D000328:Adult; D001259:Ataxia / Q000235:genetics; D005260:Female; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics*; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics*; D051116:Receptors, Scavenger / Q000235:genetics*; D051437:Renal Insufficiency / Q000150:complications* / Q000235:genetics; D017422:Sequence Analysis, DNA / Q000379:methods
chemical_list: D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human