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Article

New data on the genetic profile and penetrance of hereditary Val30Met transthyretin amyloidosis in Sweden.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jun 2021

Gorram Farida, Olsson Malin, Alarcon Flora, Nuel Gregory, Anan Intissar, Planté-Bordeneuve Violaine

Abstract excerpt

INTRODUCTION: Hereditary transthyretin (ATTRv) amyloidosis is of autosomal dominant transmission, caused by a spectrum of mutations in the transthyretin (TTR) gene. The ATTRV30M (p.Val50Met) is the most frequent substitution in Europe. Northern Sweden is a known cluster for ATTRV30M amyloidosis patients due to high prevalence of the mutation rate, with homozygous cases. First symptoms occur generally during the...

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Identifiers

PMID: 33146042
DOI: 10.1080/13506129.2020.1841623

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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