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Amyloid
The Journal of Protein Folding Disorders
Volume 10, 2003 - Issue 1
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Original Article

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

Yo-Ichi Takei Third Department of Medicine, Shinshu University School of Medicine, 3–1-1 Asahi, Matsumoto, 390–8621, JapanCorrespondence[email protected]
,
Takeshi Hattori Third Department of Medicine, Shinshu University School of Medicine, 3–1-1 Asahi, Matsumoto, 390–8621, Japan
,
Masahide Yazaki Third Department of Medicine, Shinshu University School of Medicine, 3–1-1 Asahi, Matsumoto, 390–8621, Japan
,
Takahiko Tokuda Third Department of Medicine, Shinshu University School of Medicine, 3–1-1 Asahi, Matsumoto, 390–8621, Japan
,
Nobuyuki Urasawa Third Department of Medicine, Shinshu University School of Medicine, 3–1-1 Asahi, Matsumoto, 390–8621, Japan
,
Shinichiro Kanai Third Department of Medicine, Shinshu University School of Medicine, 3–1-1 Asahi, Matsumoto, 390–8621, Japan
&
Shu-Ichi Ikeda Third Department of Medicine, Shinshu University School of Medicine, 3–1-1 Asahi, Matsumoto, 390–8621, Japan
 show all
Pages 25-28 | Received 12 Jun 2002, Accepted 24 Oct 2002, Published online: 06 Jul 2009

Citations (7)

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Read on this site (4)

Masamitsu Okada, Yohei Misumi, Mitsuharu Ueda, Taro Yamashita, Teruaki Masuda, Masayoshi Tasaki & Yukio Ando. (2017) A novel transthyretin variant V28S (p.V48S) with a double-nucleotide substitution in the same codon. Amyloid 24:4, pages 248-249.
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Shigeaki Mitsuhashi, Masahide Yazaki, Takahiko Tokuda, Yoshiki Sekijima, Yukihiko Washimi, Yuko Shimizu, Yukio Ando, Merrill D. Benson & Shu-Ichi Ikeda. (2005) Biochemical characteristics of variant transthyretins causing hereditary leptomeningeal amyloidosis. Amyloid 12:4, pages 216-225.
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Shu-ichi Ikeda, Yo-ichi Takei, Takahiko Tokuda, Masamitu Nakazato & Yukio Ando. (2003) Clinical and pathological findings of non-Val30Met TTR type familial amyloid polyneuropathy in Japan. Amyloid 10:sup1, pages 39-47.
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Takeshi Hattori, Yo-Ichi Takei, Jun Koyama, Masamitsu Nakazato & Shu-Ichi Ikeda. (2003) Clinical and pathological studies of cardiac amyloidosis in transthyretin type familial amyloid polyneuropathy. Amyloid 10:4, pages 229-239.
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Articles from other publishers (3)

Mahshid Malakootian, Mahdieh Soveizi, Akram Gholipour & Maziar Oveisee. (2022) Pathophysiology, Diagnosis, Treatment, and Genetics of Carpal Tunnel Syndrome: A Review. Cellular and Molecular Neurobiology 43:5, pages 1817-1831.
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Natalia Garcia-Angarita, Janbernd Kirschner, Mandy Heiliger, Christian Thirion, Maggie C. Walter, Susanne Schnittfeld-Acarlioglu, Matthias Albrecht, Klaus Müller, Dagmar Wieczorek, Hanns Lochmüller & Sabine Krause. (2009) Severe nemaline myopathy associated with consecutive mutations E74D and H75Y on a single ACTA1 allele. Neuromuscular Disorders 19:7, pages 481-484.
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Shu-ichi IKEDA. (2004) Cardiac Amyloidosis: Heterogenous Pathogenic Backgrounds. Internal Medicine 43:12, pages 1107-1114.
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