Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.

doi:10.1080/13506129.2022.2142110

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

Community

Back to search

Article

Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.

Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis - 1 Jun 2023

de Frutos Fernando, Ochoa Juan Pablo, Gómez-González Cristina, Reyes-Leiva David, Aróstegui Juan I, Casasnovas Carlos, Barriales-Villa Roberto, Sevilla Teresa, Gonzalez-Lopez Esther, Ramil Elvira, Galan Lucia, González-Costello Jose, García-Álvarez Ana, Rojas-Garcia Ricard, Espinosa Maria Angeles, Garcia-Pavia Pablo

Abstract excerpt

BACKGROUND: The p.Glu109Lys variant (Glu89Lys) is a rare cause of hereditary transthyretin amyloidosis (ATTRv) for which clinical spectrum remains unresolved. We sought to describe the clinical characteristics and outcomes of ATTR Glu89Lys amyloidosis and assess a potential founder effect in Spain. METHODS: Patients with the p.Glu109Lys ATTRv variant from 14 families were recruited at 7 centres. Demographics,...

Read the complete abstract on PubMed

Topics

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

Share to Amyloid Neuropathies, Familial

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Amyloidosis: Diagnosis, Treatment, Outcomes

Share to Heart

Share to Parathyroid Disorders and Treatments

Share to Phenotype

Share to Prealbumin

Share to Protein Kinase Regulation and GTPase Signaling

Share to Spain

Source

Open in PubMed

Identifiers

PMID: 36343383
DOI: 10.1080/13506129.2022.2142110

Provenance

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotype and clinical outcomes of Glu89Lys hereditary transthyretin amyloidosis: a new endemic variant in Spain.PMID 36343383Read ↗

Genetic and Clinical Spectrum of Hereditary Transthyretin Amyloidosis in Brazil.Semantic proximity Read ↗

A description of variant transthyretin amyloidosis (ATTRv) stage 1 patients and asymptomatic carriers in Spain: the EMPATIa study.Semantic proximity Read ↗

Characterization and natural history of different phenotypes in hereditary transthyretin amyloidosis: 40-year experience at a single Italian referral centre.Semantic proximity Read ↗

A multicentric study of the disease risks and first manifestations in hereditary transthyretin amyloidosis (ATTRv): insights for an earlier diagnosisSemantic proximity Read ↗

Cardiac involvement, morbidity and mortality in hereditary transthyretin amyloidosis because of p.Glu89Gln mutation.Semantic proximity Read ↗

Clinical spectrum of Transthyretin amyloidogenic mutations among diverse population origins.Semantic proximity Read ↗

Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the Transthyretin Cardiac Amyloidosis Registry in the state of São Paulo, Brazil (REACT-SP).Semantic proximity Read ↗

Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability.Semantic proximity Read ↗

Transthyretin cardiac amyloidosis in continental Western Europe: an insight through the Transthyretin Amyloidosis Outcomes Survey (THAOS)Semantic proximity Read ↗

Phenotypic characteristics of F64L, I68L, I107V, and S77Y ATTRv genotypes from the Transthyretin Amyloidosis Outcomes Survey (THAOS).Semantic proximity Read ↗

A novel TTR mutation (p.Ala65Val) underlying late-onset hereditary transthyretin (ATTRv) amyloidosis with mixed cardiac and neuropathic phenotype: a case report.Semantic proximity Read ↗

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