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[A pedigree with hypertrophic cardiomyopathy caused by a thyroxine translocator c.128G>A mutation].

Zhonghua xin xue guan bing za zhi - 24 Jul 2024

Sun Y Q, Wang Z Y, Cui J, Lyu J, Du X, Dong J Z

Abstract excerpt

转甲状腺素蛋白淀粉样变性心肌病（ATTR-CM）比较罕见，目前针对ATTR-CM的早期诊断仍存在挑战，氯苯唑酸在ATTR-CM的治疗领域开创先河。该文报道1家系中2名成员被确诊为家族遗传型ATTR-CM，1名成员发现同样位点c.128G>A基因突变，为ATTR-CM的诊治提供经验和证据。.

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Identifiers

PMID: 39019834
DOI: 10.3760/cma.j.cn112148-20230725-00022

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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