Familial amyloid polyneuropathy in Korea: the first case report with a proven ATTR Lys35Asn gene.
A 39-year-old man with progressive peripheral neuropathy and autonomic failure showed amyloid deposition on sural nerve biopsy. Direct DNA sequencing of the TTR gene revealed a G to T mutation, causing a Lys to Asn substitution at position 35. This is the first FAP case in Korea which was diagnosed by a DNA test.
Ryu
Jin Kyung
JK
Department of Internal Medicine, Boondang Jaesaeng General Hospital, Sungnam, Korea.
Baik
Hyun Wook
HW
Bae
Jin Soo
JS
Hwang
Tae Jun
TJ
Paik
So Ya
SY
Yu
Hyun Jeung
HJ
Choi
Byung Ok
BO
Takei
Yo-Ichi
Y
Ikeda
Shu-Ichi
S
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D000682:Amyloid / Q000235:genetics*; D028227:Amyloid Neuropathies, Familial / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation / Q000235:genetics*; D010375:Pedigree; D011228:Prealbumin / Q000235:genetics*
D000682:Amyloid; D011228:Prealbumin; C076571:transthyretin-related amyloid fibril protein, human