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Hereditary ATTR Amyloidosis with Cardiomyopathy Caused by the Novel Variant Transthyretin Y114S (p.Y134S)

We report the clinical features of a patient with hereditary transthyretin (ATTR) amyloidosis associated with a novel mutation (Y114S, p.Y134S). A 65-year-old Japanese man was admitted to our hospital after a 3-year history of progressive dyspnea on exertion. Five years previously, he presented dyse...

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Detalles Bibliográficos
Autores principales:	Nakase, Taku, Yamashita, Taro, Matsuo, Yoshimasa, Nomura, Toshiya, Sasada, Keiko, Masuda, Teruaki, Misumi, Yohei, Takamatsu, Kotaro, Oda, Seitaro, Furukawa, Yutaro, Obayashi, Konen, Matsui, Hirotaka, Ando, Yukio, Ueda, Mitsuharu
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	The Japanese Society of Internal Medicine 2019
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6794161/ https://www.ncbi.nlm.nih.gov/pubmed/31178489 http://dx.doi.org/10.2169/internalmedicine.2456-18

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