title: A new SCARB2 mutation in a patient with progressive myoclonus ataxia without renal failure.
authors: Parkinson's Disease and Movement Disorders Program, Hospital de Clínicas José de San Martín, University of Buenos Aires, Argentina.
authors: Claudia
authors: C
authors: Perandones
authors: Luis Alejandro
authors: LA
authors: Pellene
authors: Federcio
authors: F
authors: Micheli
mesh_terms: D005260:Female; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D020191:Myoclonic Epilepsies, Progressive / Q000235:genetics*; D009207:Myoclonus / Q000235:genetics*; D051116:Receptors, Scavenger / Q000235:genetics*; D051437:Renal Insufficiency / Q000150:complications*
chemical_list: D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger