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The APOA1 p.Leu202Arg variant potentially causes autosomal recessive cardiac amyloidosis.
Yagi, Shusuke; Miyamoto, Ryosuke; Tasaki, Masayoshi; Morino, Hiroyuki; Otani, Ryuji; Kadota, Muneyuki; Ise, Takayuki; Yamazaki, Hiroki; Kusunose, Kenya; Yamaguchi, Koji; Yamada, Hirotsugu; Soeki, Takeshi; Wakatsuki, Tetsuzo; Fukuda, Daiju; Ueda, Mitsuharu; Sata, Masataka.
Afiliação
  • Yagi S; Department of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan. syagi@tokushima-u.ac.jp.
  • Miyamoto R; Department of Community and Family Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan. syagi@tokushima-u.ac.jp.
  • Tasaki M; Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
  • Morino H; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
  • Otani R; Department of Medical Genetics, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
  • Kadota M; Department of Cardiology, Tokushima Red Cross Hospital, Tokushima, Japan.
  • Ise T; Department of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
  • Yamazaki H; Department of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
  • Kusunose K; Department of Neurology, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
  • Yamaguchi K; Department of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
  • Yamada H; Department of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
  • Soeki T; Department of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
  • Wakatsuki T; Department of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
  • Fukuda D; Department of Cardiovascular Medicine, Tokushima University Graduate School of Biomedical Sciences, Tokushima, Japan.
  • Ueda M; Department of Cardiovascular Medicine, Osaka Metropolitan University Graduate School of Medicine, Osaka, Japan.
  • Sata M; Department of Neurology, Graduate School of Medical Sciences, Kumamoto University, Kumamoto, Japan.
Hum Genome Var ; 11(1): 30, 2024 Aug 16.
Article em En | MEDLINE | ID: mdl-39152105
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 cardiac amyloidosis who was born to consanguineous parents and carried a homozygous variant of p.Leu202Arg in APOA1.
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2024 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Idioma: En Revista: Hum Genome Var Ano de publicação: 2024 Tipo de documento: Article