title: SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy.
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom.
authors.forename: Gavin
authors.initials: G
authors.lastname: Charlesworth
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology, London, United Kingdom.|Department of Neurology, University Hospital Heidelberg, Heidelberg, Germany.
authors.forename: Bettina
authors.initials: B
authors.lastname: Balint
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom.
authors.forename: Niccolò E
authors.initials: NE
authors.lastname: Mencacci
authors.affiliation: Neuroscience Department, GOSH, London, United Kingdom.
authors.forename: Lucinda
authors.initials: L
authors.lastname: Carr
authors.affiliation: Department of Molecular Neuroscience, UCL Institute of Neurology, Queen Square, London, United Kingdom.
authors.forename: Nicholas W
authors.initials: NW
authors.lastname: Wood
authors.affiliation: Sobell Department of Motor Neuroscience and Movement Disorders UCL Institute of Neurology, London, United Kingdom.
authors.forename: Kailash P
authors.initials: KP
authors.lastname: Bhatia
mesh_terms: D000293:Adolescent; D001921:Brain / Q000000981:diagnostic imaging; D003241:Consanguinity; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D024101:Mitochondrial Proteins / Q000235:genetics*; D009154:Mutation; D002527:Myoclonic Cerebellar Dyssynergia / Q000150:complications / Q000235:genetics*; D009896:Optic Atrophy / Q000150:complications / Q000235:genetics*; D009901:Optic Nerve Diseases / Q000150:complications / Q000235:genetics*; D010375:Pedigree; D028061:Phosphate Transport Proteins / Q000235:genetics*; D035781:Siblings
chemical_list: D024101:Mitochondrial Proteins; D028061:Phosphate Transport Proteins; C584459:SLC25A46 protein, human