The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis

The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis

Abstract ApoA-I amyloidosis is an extremely rare form of systemic amyloidosis that commonly involves the heart, kidneys, and liver. ApoA-I amyloidosis is caused by amyloidogenic variants of APOA1 that are inherited in an autosomal dominant manner. Here, we report a 69-year-old man with sporadic card...

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Main Authors: Shusuke Yagi, Ryosuke Miyamoto, Masayoshi Tasaki, Hiroyuki Morino, Ryuji Otani, Muneyuki Kadota, Takayuki Ise, Hiroki Yamazaki, Kenya Kusunose, Koji Yamaguchi, Hirotsugu Yamada, Takeshi Soeki, Tetsuzo Wakatsuki, Daiju Fukuda, Mitsuharu Ueda, Masataka Sata
Format: Article
Language:English
Published: Nature Publishing Group 2024-08-01
Series:Human Genome Variation
Online Access:https://doi.org/10.1038/s41439-024-00288-7
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