title: Ophthalmologic involvement in Japanese siblings with chorea-acanthocytosis caused by a novel chorein mutation.
authors.forename: Ikuko
authors.initials: I
authors.lastname: Ogawa
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Saigoh
authors.forename: Makito
authors.initials: M
authors.lastname: Hirano
authors.forename: Yoshiyuki
authors.initials: Y
authors.lastname: Mtsui
authors.forename: Koji
authors.initials: K
authors.lastname: Sugioka
authors.forename: Junko
authors.initials: J
authors.lastname: Takahashi
authors.forename: Yoshikazu
authors.initials: Y
authors.lastname: Shimomura
authors.forename: Yoshihiko
authors.initials: Y
authors.lastname: Tani
authors.forename: Yusaku
authors.initials: Y
authors.lastname: Nakamura
authors.forename: Susumu
authors.initials: S
authors.lastname: Kusunoki
mesh_terms: D000012:Abetalipoproteinemia / Q000150:complications* / Q000235:genetics*; D000328:Adult; D044466:Asian People; D002386:Cataract / Q000209:etiology; D002819:Chorea / Q000150:complications* / Q000235:genetics*; D004247:DNA / Q000235:genetics; D005128:Eye Diseases / Q000209:etiology* / Q000235:genetics*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D012333:RNA, Messenger / Q000096:biosynthesis / Q000097:blood / Q000235:genetics; D012163:Retinal Detachment / Q000209:etiology; D035781:Siblings; D033921:Vesicular Transport Proteins / Q000235:genetics*; D014792:Visual Acuity
chemical_list: D012333:RNA, Messenger; C429654:VPS13A protein, human; D033921:Vesicular Transport Proteins; D004247:DNA
keywords: Acanthocytes; Chorea; Chorein; Choreoacanthocytosis; Eye