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[Expert Consensus Recommendations for the Diagnosis of Hereditary Transthyretin Amyloidosis with Polyneuropathy (hATTR-PN) in Chile].

Revista medica de Chile - 1 Feb 2026

Bevilacqua Jorge A, Matamala José Manuel, Zamorano Ivonne, Hernández Úrsula, Acosta Ignacio, Jurado Felipe, Earle Nicholas, Fernández Ramiro

Abstract excerpt

Hereditary transthyretin amyloidosis is an autosomal dominant disease caused by mutations in the TTR gene, which encodes the protein transthyretin. It is characterized by the deposit of mutated transthyretin in multiple organs and systems, mainly the heart and peripheral nervous system, causing different forms of polyneuropathy. It is a progressive, disabling and fatal disease. Early diagnosis of hereditary...

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Identifiers

PMID: 42024697
DOI: 10.4067/s0034-98872026000200270

Genes

TTR

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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