title: A case of severe hearing loss in action myoclonus renal failure syndrome resulting from mutation in SCARB2.
authors: Claudia
authors: C
authors: Perandones
authors: Federico E
authors: FE
authors: Micheli
authors: Luis A
authors: LA
authors: Pellene
authors: Marta A
authors: MA
authors: Bayly
authors: Samuel F
authors: SF
authors: Berkovic
authors: Leanne M
authors: LM
authors: Dibbens
mesh_terms: D000328:Adult; D001301:Audiometry, Pure-Tone; D001306:Auditory Pathways; D004569:Electroencephalography; D005260:Female; D034381:Hearing Loss / Q000209:etiology* / Q000235:genetics / Q000503:physiopathology; D006801:Humans; D051907:Lysosomal Membrane Proteins / Q000235:genetics*; D009154:Mutation; D020191:Myoclonic Epilepsies, Progressive / Q000150:complications* / Q000235:genetics / Q000503:physiopathology; D016133:Polymerase Chain Reaction; D051116:Receptors, Scavenger / Q000235:genetics*
chemical_list: D051907:Lysosomal Membrane Proteins; D051116:Receptors, Scavenger; C074299:SCARB2 protein, human