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Article

Pathogenic Characterization of a Novel G47R Transthyretin Mutation in Early-Onset Amyloid Cardiomyopathy.

Journal of the American Heart Association - 19 May 2026

Wang Bo, Gao Rui, Cui Xinyue, Wang Mengdie, Sun Jialu, Shen Di, Wang Yajing, Zhao Jianli, Zhang Ruifang, Zhang Li, Liu ZhiYu, Duan Xuejing, Li Li, Liu Yu, Zhang Jinying, Tang Junnan

Abstract excerpt

BACKGROUND: Transthyretin amyloid cardiomyopathy is a progressive infiltrative cardiomyopathy driven by the deposition of amyloid fibrils derived from destabilized transthyretin (TTR). Although several pathogenic TTR variants have been characterized, the clinical significance and molecular behavior of rare mutations remain poorly understood. METHODS: A 31-year-old woman with early-onset transthyretin amyloid...

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Share to Amyloid Neuropathies, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 42132180
DOI: 10.1161/JAHA.125.044745
PMCID: PMC13279553

Genes

TTR

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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