Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: A clinicopathologic study

Phenotypic heterogeneity in a family with FAP due to a TTR Leu58Arg mutation: A clinicopathologic study

フォーマット:

論文

責任表示:

Motozaki, Yuko ; Sugiyama, Yu ; Ishida, Chiho ; Komai, Kiyonobu ; Matsubara, Shiro ; Yamada, Masahito

言語:

英語

出版情報:

Elsevier, 2007-09-15

著者名:

掲載情報:

Journal of the Neurological Sciences

ISSN:

0022-510x

巻:

260

通号:

1-2

開始ページ:

236

終了ページ:

239

バージョン:

author

概要:

金沢大学医学部附属病院神経内科<br />A family with familial amyloid polyneuropathy (FAP) due to a transthyretin (TTR) Leu58Arg mutation was investigated clinicopathologically. The proband presented with sensorimotor-autonomic polyneuropathy and autop … sy demonstrated massive amyloid deposition in the peripheral nerves and heart. However, the mother was characterized by carpal tunnel syndrome and ocular vitreous opacities. Thus, there was considerable phenotypic heterogeneity among family members despite the identical TTR genotype. © 2007 Elsevier B.V. All rights reserved. 続きを見る

URL:

http://hdl.handle.net/2297/7021

タイトル・著者・出版者が同じ資料

詳細

主題:	Carpal tunnel syndrome; Familial amyloid polyneuropathy; Mutation; Transthyretin; Vitreous opacity
受理日:	2007-09-15

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