Article
A low amyloidogenic E61K transthyretin mutation may cause familial amyloid polyneuropathy.
Journal of neurochemistry - 1 Mar 2021
Murakami Tatsufumi, Yokoyama Takeshi, Mizuguchi Mineyuki, Toné Shigenobu, Takaku Shizuka, Sango Kazunori, Nishimura Hirotake, Watabe Kazuhiko, Sunada Yoshihide
Abstract excerpt
Patients with transthyretin (TTR)-type familial amyloid polyneuropathy (FAP) typically exhibit sensory dominant polyneuropathy and autonomic neuropathy. However, the molecular pathogenesis of the neuropathy remains unclear. In this study, we characterize the features of FAP TTR the substitution of lysine for glutamic acid at position 61 (E61K). This FAP was late-onset, with sensory dominant polyneuropathy,...
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