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

Novel insights on GTPBP3-associated hypertrophic cardiomyopathy.

American journal of medical genetics. Part A - 1 Jul 2023

Angelova Petya, Velchev Vasil, Stoyanov Nikolay, Atemin Slavena, Todorov Tihomir, Tourtourikov Ivan, Mitev Vanyo, Todorova Albena

Abstract excerpt

About 100 genes have been associated with cardiomyopathies with genotype-phenotype correlations often hard to establish. Genetic testing may help to confirm the genetic diagnosis and assess the risk of inheritance in the family. A 25-year old male with hypertrophic cardiomyopathy and fasciculoventricular accessory pathway was referred for genetic testing by his cardiologist. Targeted PRKAG2 screening and...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathies
Share to Cardiomyopathy, Hypertrophic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Genetic Testing

Share to GTP-Binding Proteins

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 37029485
DOI: 10.1002/ajmg.a.63205

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel insights on GTPBP3-associated hypertrophic cardiomyopathy.PMID 37029485Read ↗

Identification of a novel de novo mutation associated with PRKAG2 cardiac syndrome and early onset of heart failure.Semantic proximity Read ↗

A Rare Coincidence of Three Inherited Diseases in a Family with Cardiomyopathy and Multiple Extracardiac Abnormalities.Semantic proximity Read ↗

Expanding the phenotypic and genetic spectrum of GTPBP3 deficiency: findings from nine Chinese pedigrees.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic.Semantic proximity Read ↗

Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic.Semantic proximity Read ↗

ALPK3 gene mutation in a patient with congenital cardiomyopathy and dysmorphic features.Semantic proximity Read ↗

Novel PRKAG2 mutation responsible for the genetic syndrome of ventricular preexcitation and conduction system disease with childhood onset and absence of cardiac hypertrophy.Semantic proximity Read ↗

Phenotypic spectrum of ALPK3‐related cardiomyopathySemantic proximity Read ↗

Identification, clinical manifestation and structural mechanisms of mutations in AMPK associated cardiac glycogen storage disease.Semantic proximity Read ↗

A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.Semantic proximity Read ↗

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.Semantic proximity Read ↗

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