Transthyretin Thr60Ala Appalachian-type mutation in a Japanese family with familial amyloidotic polyneuropathy.
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.
Kotani
Nobuhiro
N
Department of Internal Medicine IV, Shimane Medical University, Izumo, Japan.
Hattori
Takeshi
T
Yamagata
Shingo
S
Tokuda
Takahiko
T
Shirasawa
Akira
A
Yamaguchi
Shuhei
S
Kobayashi
Shotai
S
Ikeda
Shu-ichi
S
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*
D011228:Prealbumin; D013912:Threonine; D004247:DNA; D000409:Alanine