title: Familial amyloid polyneuropathy related to transthyretin mutation Val30 to Leu in a Japanese family.
abstract: A rare variant transthyretin that has a leucine-for-valine substitution at position 30 was reported in a sporadic case of type 1 familial amyloid polyneuropathy (FAP). We found the same substitution in members of a Japanese family with FAP. Three individuals in this family had a guanine-to-cytosine mutation at the first base of codon 30 in exon 2. This family shows a direct link between a valine-to-leucine substitution at position 30 and type 1 FAP.
authors.affiliation: Department of Neurology, Iwate Medical University, Morioka, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Utsugisawa
authors.forename: H
authors.initials: H
authors.lastname: Tohgi
authors.forename: Y
authors.initials: Y
authors.lastname: Nagane
authors.forename: M
authors.initials: M
authors.lastname: Yamagata
authors.forename: K
authors.initials: K
authors.lastname: Saito
authors.forename: M
authors.initials: M
authors.lastname: Mihara
mesh_terms: D019943:Amino Acid Substitution; D017772:Amyloid Neuropathies / Q000235:genetics*; D001483:Base Sequence; D005260:Female; D006801:Humans; D007564:Japan; D008875:Middle Aged; D010375:Pedigree; D017354:Point Mutation / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011228:Prealbumin / Q000235:genetics*
chemical_list: D011228:Prealbumin