An aggressive familial amyloidotic polyneuropathy caused by a new variant transthyretin Lys 54.
作者信息
Togashi S, Watanabe H, Nagasaka T, Shindo K, Shiozawa Z, Maeda S, Tawata M, Onaya T
机构信息
Third Department of Internal Medicine, Yamanashi Medical University, Tamaho, Japan.
出版信息
Neurology. 1999 Aug 11;53(3):637-9. doi: 10.1212/wnl.53.3.637.
PMID:10449136
Abstract
Histologic examination of sural nerve of a 32-year-old man with an aggressive polyneuropathy associated with autonomic failure demonstrated amyloid deposition, and familial amyloidotic polyneuropathy (FAP) was diagnosed. Immunohistochemical staining showed transthyretin (TTR) staining of the amyloid deposits in nerve. Sequencing revealed G to A transition in the codon 54 causing TTR Lys 54. This is a new variant TTR associated with aggressive FAP.
摘要
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