Clinical features of hereditary transthyretin amyloidosis-polyneuropathy with transthyretin Ala97Ser(p.Ala117Ser) mutation in South Mainland China

Clinical features of hereditary transthyretin amyloidosis-polyneuropathy with transthyretin Ala97Ser(p.Ala117Ser) mutation in South Mainland China

Abstract Objective Our study aimed to report the clinical features and epidemiological characteristics of hereditary transthyretin amyloidosis-polyneuropathy(ATTRv-PN) with TTR Ala97Ser(p.Ala117Ser) mutation from South Mainland China. Methods We identified 21 patients from 20 families diagnosed with...

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Bibliographic Details
Main Authors: Yeli Zhu, Jingxian Fan, Xiying Zhu, Wei Li, Zhaoyong Zhang, Hui Zheng, Zhihua Zhou, Lingchao Meng, Ruxu Zhang, Haishan Jiang
Format: Article
Language:English
Published: BMC 2025-04-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Hereditary transthyretin amyloidosis (ATTRv)
TTR gene mutation
Clinical feature
Scoring model
Online Access:https://doi.org/10.1186/s13023-025-03733-0
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