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

Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation.

Scientific reports - 17 Jan 2018

Wang Jie, Wan Ke, Sun Jiayu, Li Weihao, Liu Hong, Han Yuchi, Chen Yucheng

Abstract excerpt

Limited data is available on phenotypic variations with the same genotype in hypertrophic cardiomyopathy (HCM). The present study aims to explore the relationship between genotype and phenotype characterized by cardiovascular magnetic resonance (CMR) in a large Chinese family. A proband diagnosed with HCM from a multigenerational family underwent next-generation sequencing based on a custom sureSelect panel,...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Cardiac Myosins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cardiomyopathy, Hypertrophic, Familial

Share to Electrocardiography

Share to Magnetic Resonance Spectroscopy

Share to Myocardium

Share to Myosin Heavy Chains

Source

Open in PubMed Open full text

Identifiers

PMID: 29343710
DOI: 10.1038/s41598-018-19372-4
PMCID: PMC5772531

Genes

MYH7

Variants

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

Phenotypic diversity identified by cardiac magnetic resonance in a large hypertrophic cardiomyopathy family with a single MYH7 mutation.PMID 29343710Read ↗

The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report.Semantic proximity Read ↗

[Correlation between genotype and clinical phenotype in hypertrophic cardiomyopathy families with MYH7-R453C mutation].Semantic proximity Read ↗

Mutations profile in Chinese patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathySemantic proximity Read ↗

[Analysis of phenotype and MYH7 gene variant in a family of patients with hypertrophic cardiomyopathy].Semantic proximity Read ↗

Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

[Analysis of genotype and phenotype correlation of MYH7-V878A mutation among ethnic Han Chinese pedigrees affected with hypertrophic cardiomyopathy].Semantic proximity Read ↗

Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigree.Semantic proximity Read ↗

Variation p.R1045H in MYH7 correlated with hypertrophic cardiomyopathy in a Chinese pedigreeSemantic proximity Read ↗

[Mutation and clinical relevance in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy].Semantic proximity Read ↗

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