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

Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patients

1 Feb 2020

Abstract excerpt

Background: FLNC encodes actin-binding protein and is mainly concentrated in skeletal and cardiac muscle. Mutations in FLNC were found in cardiomyopathies. To date, studies on FLNC-cardiomyopathies have mainly been reported in adults. There are limited studies that have investigated FLNC variants in pediatric patients with cardiomyopathies. Methods: We summarized the patients who carried rare variants of FLNC...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy and Myosin Studies
Share to Genomics and Rare Diseases
Share to Skin and Cellular Biology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32154132
DOI: 10.21037/tp.2019.12.02

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Clinical exome sequencing revealed that FLNC variants contribute to the early diagnosis of cardiomyopathies in infant patientsPMID 32154132Read ↗

Novel FLNC variants in pediatric cardiomyopathy: an insight into disease mechanisms.Semantic proximity Read ↗

A novel splicing variant in FLNC gene responsible for a highly penetrant familial dilated cardiomyopathy in an extended Iranian family.Semantic proximity Read ↗

[Clinical analysis of pediatric restrictive cardiomyopathy associated with FLNC gene variants in 5 children].Semantic proximity Read ↗

Loss-of-Function FLNC Variants Are Associated With Arrhythmogenic Cardiomyopathy Phenotypes When Identified Through Exome Sequencing of a General Clinical Population.Semantic proximity Read ↗

A mutation update for the FLNC gene in myopathies and cardiomyopathies.Semantic proximity Read ↗

Identification of Gene Mutations in Primary Pediatric Cardiomyopathy by Whole Exome Sequencing.Semantic proximity Read ↗

Clinical Outcomes and Genetic Analyses of Restrictive Cardiomyopathy in Children.Semantic proximity Read ↗

Congenital dilated cardiomyopathy caused by biallelic mutations in Filamin C.Semantic proximity Read ↗

Novel pathogenic variants in filamin C identified in pediatric restrictive cardiomyopathySemantic proximity Read ↗

Loss-of-Function <i>FLNC</i> Variants are Associated with Arrhythmogenic Cardiomyopathy Phenotypes when Identified through Exome Sequencing of a General Clinical PopulationSemantic proximity Read ↗

Distinct molecular features of FLNC mutations, associated with different clinical phenotypes.Semantic proximity Read ↗

Novel combination of FLNC (c.5707G>A; p. Glu1903Lys) and BAG3 (c.610G>A; p.Gly204Arg) genetic variant expressing restrictive cardiomyopathy phenotype in an adolescent girl.Semantic proximity Read ↗

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