title: Atypical giant axonal neuropathy arising from a homozygous mutation by uniparental isodisomy.
authors.affiliation: Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.
authors.forename: S
authors.initials: S
authors.lastname: Miyatake
authors.forename: H
authors.initials: H
authors.lastname: Tada
authors.forename: S
authors.initials: S
authors.lastname: Moriya
authors.forename: J
authors.initials: J
authors.lastname: Takanashi
authors.forename: Y
authors.initials: Y
authors.lastname: Hirano
authors.forename: M
authors.initials: M
authors.lastname: Hayashi
authors.forename: Y
authors.initials: Y
authors.lastname: Oya
authors.forename: M
authors.initials: M
authors.lastname: Nakashima
authors.forename: Y
authors.initials: Y
authors.lastname: Tsurusaki
authors.forename: N
authors.initials: N
authors.lastname: Miyake
authors.forename: N
authors.initials: N
authors.lastname: Matsumoto
authors.forename: H
authors.initials: H
authors.lastname: Saitsu
mesh_terms: D001483:Base Sequence; D003598:Cytoskeletal Proteins / Q000235:genetics*; D059472:Exome / Q000235:genetics; D005260:Female; D056768:Giant Axonal Neuropathy / Q000235:genetics* / Q000473:pathology*; D006720:Homozygote; D006801:Humans; D008279:Magnetic Resonance Imaging; D008969:Molecular Sequence Data; D009431:Neural Conduction / Q000235:genetics / Q000502:physiology; D017422:Sequence Analysis, DNA; D024182:Uniparental Disomy / Q000235:genetics*
chemical_list: D003598:Cytoskeletal Proteins; C416508:GAN protein, human