Familial amyloid polyneuropathy in Korea: The first case report with a proven ATTR Lys35Asn gene

Jin Kyung Ryu; Hyun Wook Baik; Jin Soo Bae; Tae Jun Hwang; So Ya Paik; Hyun Jeung Yu; Byung Ok Choi; Yo Ichi Takei; Shu Ichi Ikeda

doi:10.1080/13506120500032790

Familial amyloid polyneuropathy in Korea: The first case report with a proven ATTR Lys35Asn gene

Jin Kyung Ryu
, Hyun Wook Baik
, Jin Soo Bae
, Tae Jun Hwang
, So Ya Paik
, Hyun Jeung Yu
, Byung Ok Choi
, Yo Ichi Takei
, Shu Ichi Ikeda

Boondang Jaesaeng General Hospital
Ewha Womans University
Shinshu University

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

Abstract

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.

Original language	English
Pages (from-to)	62-64
Number of pages	3
Journal	Amyloid
Volume	12
Issue number	1
DOIs	https://doi.org/10.1080/13506120500032790
State	Published - Mar 2005
Externally published	Yes

Keywords

Amyloid
DNA test
Familial amyloid polyneuropathy
Peripheral neuropathy
Transthyretin

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10.1080/13506120500032790

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title = "Familial amyloid polyneuropathy in Korea: The first case report with a proven ATTR Lys35Asn gene",

abstract = "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.",

keywords = "Amyloid, DNA test, Familial amyloid polyneuropathy, Peripheral neuropathy, Transthyretin",

author = "Ryu, \{Jin Kyung\} and Baik, \{Hyun Wook\} and Bae, \{Jin Soo\} and Hwang, \{Tae Jun\} and Paik, \{So Ya\} and Yu, \{Hyun Jeung\} and Choi, \{Byung Ok\} and Takei, \{Yo Ichi\} and Ikeda, \{Shu Ichi\}",

year = "2005",

month = mar,

doi = "10.1080/13506120500032790",

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T2 - The first case report with a proven ATTR Lys35Asn gene

AU - Ryu, Jin Kyung

AU - Baik, Hyun Wook

AU - Bae, Jin Soo

AU - Hwang, Tae Jun

AU - Paik, So Ya

AU - Yu, Hyun Jeung

AU - Choi, Byung Ok

AU - Takei, Yo Ichi

AU - Ikeda, Shu Ichi

PY - 2005/3

Y1 - 2005/3

N2 - 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.

AB - 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.

KW - Amyloid

KW - DNA test

KW - Familial amyloid polyneuropathy

KW - Peripheral neuropathy

KW - Transthyretin

UR - https://www.scopus.com/pages/publications/21244469825

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DO - 10.1080/13506120500032790

M3 - Article

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AN - SCOPUS:21244469825

SN - 1350-6129

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ER -

Familial amyloid polyneuropathy in Korea: The first case report with a proven ATTR Lys35Asn gene

Abstract

Keywords

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