title: Transthyretin Thr60Ala Appalachian-type mutation in a Japanese family with familial amyloidotic polyneuropathy.
abstract: A Japanese case with familial amyloidotic polyneuropathy (FAP) associated with the transthyretin mutation Thr60Ala (Appalachian-type mutation) is described This is the first reported case of a non-Caucasian harboring this type of TTR mutation. The patient developed severe late-onset restrictive cardiomyopathy as well as sensorimotor and autonomic polyneuropathy, which were essentially similar to the previously reported clinical pictures of Appalachian-type FAP.
authors: Department of Internal Medicine IV, Shimane Medical University, Izumo, Japan.
authors: Nobuhiro
authors: N
authors: Kotani
authors: Takeshi
authors: T
authors: Hattori
authors: Shingo
authors: S
authors: Yamagata
authors: Takahiko
authors: T
authors: Tokuda
authors: Akira
authors: A
authors: Shirasawa
authors: Shuhei
authors: S
authors: Yamaguchi
authors: Shotai
authors: S
authors: Kobayashi
authors: Shu-ichi
authors: S
authors: Ikeda
mesh_terms: D000368:Aged; D000409:Alanine / Q000235:genetics*; D000595:Amino Acid Sequence; D028227:Amyloid Neuropathies, Familial / Q000235:genetics*; D001483:Base Sequence; D004247:DNA; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D017354:Point Mutation; D011228:Prealbumin / Q000235:genetics*; D013912:Threonine / Q000235:genetics*
chemical_list: D011228:Prealbumin; D013912:Threonine; D004247:DNA; D000409:Alanine