Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

A clinical, echocardiographic and genetic characterization of a Danish kindred with familial amyloid transthyretin methionine 111 linked cardiomyopathy.

European heart journal - 1 May 1998

Svendsen I H, Steensgaard-Hansen F, Nordvåg B Y

Abstract excerpt

AIMS: To identify carriers and non-carriers of the mutant transthyretin methionine 111 linked familial amyloid disease, to detect early signs of the restrictive cardiomyopathy and other clinical manifestations characteristic of this inheritable disease. METHODS AND RESULTS: Out of 125 living family members 99 were available for clinical, echocardiographic and genetic examination. Twenty-five family members were...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Adolescent
Share to Aged
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Genetic Carrier Screening

Share to Genetic Linkage

Share to Genotype

Share to Pedigree

Source

Identifiers

PMID: 9717013
DOI: 10.1053/euhj.1997.0841

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

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A clinical, echocardiographic and genetic characterization of a Danish kindred with familial amyloid transthyretin methionine 111 linked cardiomyopathy.PMID 9717013Read ↗

[Hereditary amyloid cardiomyopathy related to a mutation at transthyretin protein number 111. A clinical, genetic and echocardiographic study of an affected Danish family].Semantic proximity Read ↗

A Danish kindred with familial amyloid cardiomyopathy revisited: identification of a mutant transthyretin-methionine111 variant in serum from patients and carriers.Semantic proximity Read ↗

A Case of Early Hereditary Transthyretin Amyloid Cardiomyopathy Recognition With Genetic Screening: A Case Report.Semantic proximity Read ↗

Phenotypic profile of Ile68Leu transthyretin amyloidosis: an underdiagnosed cause of heart failure.Semantic proximity Read ↗

Late onset cardiomyopathy as presenting sign of ATTR A45G amyloidosis caused by a novel TTR mutation (p.A65G).Semantic proximity Read ↗

Cardiomyopathy in Swedish patients with the Gly53Glu and His88Arg transthyretin variants.Semantic proximity Read ↗

Elevated filling pressures but rare restrictive physiology in transthyretin amyloid cardiomyopathy: genotype-specific patterns and the role of left atrial strain.Semantic proximity Read ↗

Cardiac Strain Imaging in Asymptomatic Carriers of Transthyretin VariantsSemantic proximity Read ↗

Amyloid heart disease mimicking hypertrophic cardiomyopathy*Semantic proximity Read ↗

Early Detection of Cardiac Amyloidosis in Transthyretin Mutation Carriers.Semantic proximity Read ↗

Molecular diagnosis of the transthyretin (TTR) Met111 mutation in familial amyloid cardiomyopathy of Danish origin.Semantic proximity Read ↗

An Italian family with Ala-47 transthyretin mutation associated with cardiomyopathy and polyneuropathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.