Article
Clinicopathologic and genetic features of early- and late-onset FAP type I (FAP ATTR Val30Met) in Japan.
Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Aug 2003
Sobue Gen, Koike Haruki, Misu Ken-ichiro, Hattori Naoki, Yamamoto Masahiko, Ikeda Shu-ichi, Ando Yukio, Nakazato Masamitsu, Inukai Akira
Abstract excerpt
Type I (transthyretin Val30Met) familial amyloid polyneuropathy (FAP ATTR Val30Met) has been reported in relation to two endemic foci in Japan. These cases are characterized by a relatively young age at onset, between the second and third decade, high penetrance rate, concentration in endemic foci, predominant loss of superficial sensation, severe autonomic dysfunction, and atrioventricular nodal block requiring...
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