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Transthyretin Variant Amyloidosis with a TTR A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy

We herein report a 68-year-old Japanese man with sporadic variant transthyretin (ATTRv) amyloidosis harboring the novel variant A97D (p.A117D) in TTR. He had slow development of asymmetric neuropathy, unintentional weight loss, mild autonomic failure and mild cardiomyopathy. TTR amyloid deposition o...

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Detalles Bibliográficos
Autores principales: Ikeda, Kazuna, Yamamoto, Daisuke, Usui, Keiko, Takeuchi, Hiroki, Oka, Nobuyuki, Katoh, Nagaaki, Yazaki, Masahide, Kametani, Fuyuki, Nishino, Ichizo, Hisahara, Shin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society of Internal Medicine 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10465283/
https://www.ncbi.nlm.nih.gov/pubmed/36543209
http://dx.doi.org/10.2169/internalmedicine.0798-22