title: Ataxia with vitamin E deficiency caused by a new compound heterozygous mutation.
authors.affiliation: Section of Neurosciences, Department G.F. Ingrassia, University of Catania, Via Santa Sofia, 78, 95123, Catania, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Zelante
authors.affiliation: Section of Neurosciences, Department G.F. Ingrassia, University of Catania, Via Santa Sofia, 78, 95123, Catania, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Patti
authors.affiliation: Section of Neurosciences, Department G.F. Ingrassia, University of Catania, Via Santa Sofia, 78, 95123, Catania, Italy.
authors.forename: Luisa
authors.initials: L
authors.lastname: Vinciguerra
authors.affiliation: Department of Biochemistry and Genetics, C. Besta National Neurological Institute, Milan, Italy.
authors.forename: Cinzia
authors.initials: C
authors.lastname: Gellera
authors.affiliation: Section of Neurosciences, Department G.F. Ingrassia, University of Catania, Via Santa Sofia, 78, 95123, Catania, Italy. m.zappia@unict.it.
authors.forename: Mario
authors.initials: M
authors.lastname: Zappia
mesh_terms: D000328:Adult; D001259:Ataxia / Q000150:complications* / Q000235:genetics*; D002352:Carrier Proteins / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D014811:Vitamin E Deficiency / Q000150:complications* / Q000235:genetics*
chemical_list: D002352:Carrier Proteins; C017763:alpha-tocopherol transfer protein