Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome.

doi:10.3109/13506120308995253

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Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Mar 2003

Takei Yo-ichi, Hattori Takeshi, Yazaki Masahide, Tokuda Takahiko, Urasawa Nobuyuki, Kanai Shinichiro, Ikeda Shu-ichi

Abstract excerpt

A 61-year-old Japanese woman with transthyretin amyloid (ATTR) Tyr69Ile, which was caused by the mutation of TTR gene TAC to ATC at codon 69, is described. The patient had no family history and developed carpal tunnel syndrome followed by congestive heart failure due to cardiac amyloidosis. Various phenotypes of familial transthyretin amyloidosis including FAP are caused by TTR variants with single amino-acid...

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Transthyretin Tyr69-to-Ile mutation (double-nucleotide substitution in codon 69) in a Japanese familial amyloidosis patient with cardiomyopathy and carpal tunnel syndrome.

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