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Article

Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man.

Heart (British Cardiac Society) - 1 Sept 1999

Gillmore J D, Booth D R, Pepys M B, Hawkins P N

Abstract excerpt

An 83 year old white man with atrial fibrillation was admitted to hospital after a cerebral infarct. Echocardiography was characteristic of cardiac amyloid deposition and subsequent tests confirmed amyloidosis of transthyretin (TTR) type, in association with the Ile122 mutation of the TTR gene; this has only been reported previously in African Americans in whom it occurs with an allele frequency of 2%. Haplotype...

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Identifiers

PMID: 10455100
DOI: 10.1136/hrt.82.3.e2
PMCID: PMC1729180

Genes

TTR

Provenance

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.

Related research

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Hereditary cardiac amyloidosis associated with the transthyretin Ile122 mutation in a white man.PMID 10455100Read ↗

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Cardiac amyloidosis in African Americans: comparison of clinical and laboratory features of transthyretin V122I amyloidosis and immunoglobulin light chain amyloidosis.Semantic proximity Read ↗

Relation of clinical, echocardiographic and electrocardiographic features of cardiac amyloidosis to the presence of the transthyretin V122I allele in older African-American men.Semantic proximity Read ↗

Significance of the amyloidogenic transthyretin Val 122 Ile allele in African Americans in the Arteriosclerosis Risk in Communities (ARIC) and Cardiovascular Health (CHS) Studies.Semantic proximity Read ↗

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Clinical Implications of the Amyloidogenic V122I Transthyretin Variant in the General Population.Semantic proximity Read ↗

Transthyretin Ile 122 and cardiac amyloidosis in African-Americans. 2 case reports.Semantic proximity Read ↗

Clinical comparison of V122I genotypic variant of transthyretin amyloid cardiomyopathy with wild-type and other hereditary variants: a systematic review.Semantic proximity Read ↗

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