| Literature DB >> 17466336 |
Yuko Motozaki1, Yu Sugiyama, Chiho Ishida, Kiyonobu Komai, Shiro Matsubara, Masahito Yamada.
Abstract
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 autopsy 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.Entities:
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Year: 2007 PMID： 17466336 DOI： 10.1016/j.jns.2007.03.021
Source DB: PubMed Journal: J Neurol Sci ISSN： 0022-510X Impact factor: 3.181