Article
Clinical features and haplotype analysis of newly identified Japanese patients with gelsolin-related familial amyloidosis of Finnish type.
Neurogenetics - 1 Aug 2012
Taira Makiko, Ishiura Hiroyuki, Mitsui Jun, Takahashi Yuji, Hayashi Toshihiro, Shimizu Jun, Matsukawa Takashi, Saito Naoko, Okada Kazumasa, Tsuji Sadatoshi, Sawamura Hiromasa, Amano Shiro, Goto Jun, Tsuji Shoji
Abstract excerpt
Familial amyloidosis of the Finnish type (FAF) is an autosomal dominant form of systematic amyloidosis characterized by lattice corneal dystrophy, cranial neuropathy, and cutis laxa. Although FAF has been frequently found in the Finnish population, FAF is a considerably rare disorder in other regions. In this study, we examined the clinical characteristics as well as the haplotypes of six Japanese patients with...
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