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Article

Unique TTR Variants D38A and M13dup Among Korean Patients with Hereditary Transthyretin Amyloidosis: A Retrospective Single-Center Cohort Study.

Annals of laboratory medicine - 1 May 2026

Park Min-Seung, Lee Jae Joon, Kim Darae, Choi Jin-Oh, Kim Seok Jin, Kim Kihyun, Min Ju-Hong, Kim Hyun-Young, Kim Hee-Jin

Abstract excerpt

Background: Transthyretin amyloidosis, a protein-misfolding disorder characterized by systemic amyloid deposition, can be classified as wild-type transthyretin amyloidosis (ATTRwt) or hereditary transthyretin amyloidosis (ATTRv), depending on the presence of transthyretin (TTR) gene variants. We examined the genetic distribution of TTR variants in Korean patients diagnosed with ATTRv. Methods: We retrospectively...

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Identifiers

PMID: 41101792
DOI: 10.3343/alm.2025.0236
PMCID: PMC13071275

Genes

TTR

Variants

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