title: Familial amyloid polyneuropathy in Korea: the first case report with a proven ATTR Lys35Asn gene.
abstract: A 39-year-old man with progressive peripheral neuropathy and autonomic failure showed amyloid deposition on sural nerve biopsy. Direct DNA sequencing of the TTR gene revealed a G to T mutation, causing a Lys to Asn substitution at position 35. This is the first FAP case in Korea which was diagnosed by a DNA test.
authors.affiliation: Department of Internal Medicine, Boondang Jaesaeng General Hospital, Sungnam, Korea.
authors.forename: Jin Kyung
authors.initials: JK
authors.lastname: Ryu
authors.forename: Hyun Wook
authors.initials: HW
authors.lastname: Baik
authors.forename: Jin Soo
authors.initials: JS
authors.lastname: Bae
authors.forename: Tae Jun
authors.initials: TJ
authors.lastname: Hwang
authors.forename: So Ya
authors.initials: SY
authors.lastname: Paik
authors.forename: Hyun Jeung
authors.initials: HJ
authors.lastname: Yu
authors.forename: Byung Ok
authors.initials: BO
authors.lastname: Choi
authors.forename: Yo-Ichi
authors.initials: Y
authors.lastname: Takei
authors.forename: Shu-Ichi
authors.initials: S
authors.lastname: Ikeda
mesh_terms: D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000682:Amyloid / Q000235:genetics*; D028227:Amyloid Neuropathies, Familial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics*
chemical_list: D000682:Amyloid; D011228:Prealbumin; C076571:transthyretin-related amyloid fibril protein, human