Article
Two siblings diagnosed to have transthyretin-related familial amyloid cardiomyopathy around the same time at different hospitals.
Internal medicine (Tokyo, Japan) - 1 Jan 2012
Miyamura Masatoshi, Terasaki Fumio, Ishibashi Kazuya, Shimazaki Chihiro, Kimura Fumiharu, Kuwabara Hiroko, Tsuji Motomu, Shibayama Yuro, Sekijima Yoshiki, Tojo Kana, Ishizaka Nobukazu
Abstract excerpt
Mutation in the transthyretin (TTR) gene may clinically manifest as cardiomyopathy. Here, we describe 69-year-old and 72-year-old brothers who were diagnosed as having TTR-related familial amyloid cardiomyopathy by endomyocardial biopsy at different hospitals at around the same time. They were not from an endemic area of familial amyloid polyneuropathy. Genetic analysis showed a base change in the TTR gene...
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