title: Adult onset Brown-Vialetto-Van Laere syndrome with opsoclonus and a novel heterozygous mutation: a case report.
authors.affiliation: Department of Neurology, Leeds General Infirmary, Leeds Teaching Hospitals NHS Trust, Leeds, UK. Electronic address: jeremycosgrove@nhs.net.
authors.forename: Jeremy
authors.initials: J
authors.lastname: Cosgrove
authors.affiliation: Department of Neurology, Bradford Royal Infirmary, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.
authors.forename: Sayan
authors.initials: S
authors.lastname: Datta
authors.affiliation: Department of Neurology, Bradford Royal Infirmary, Bradford Teaching Hospitals NHS Foundation Trust, Bradford, UK.
authors.forename: Mark
authors.initials: M
authors.lastname: Busby
mesh_terms: D000328:Adult; D017668:Age of Onset; D010244:Bulbar Palsy, Progressive / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D005260:Female; D006319:Hearing Loss, Sensorineural / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D006579:Heterozygote; D006801:Humans; D026901:Membrane Transport Proteins / Q000235:genetics*; D009154:Mutation; D015835:Ocular Motility Disorders / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics
chemical_list: D026901:Membrane Transport Proteins; C548553:SLC52A3 protein, human
keywords: Brown–Vialetto–Van Laere; Neuromuscular disease; Riboflavin