Article
Transthyretin Variant Amyloidosis with a TTR A97D (p.A117D) Mutation Manifesting Remarkable Asymmetric Neuropathy.
Internal medicine (Tokyo, Japan) - 1 Aug 2023
Ikeda Kazuna, Yamamoto Daisuke, Usui Keiko, Takeuchi Hiroki, Oka Nobuyuki, Katoh Nagaaki, Yazaki Masahide, Kametani Fuyuki, Nishino Ichizo, Hisahara Shin
Abstract excerpt
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 on the gastric duodenal mucosa was detected. In silico analyses predicted that TTR A97D (p.A117D) altered the...
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