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Article

Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.

DNA and cell biology - 1 Oct 2014

Guo Qianqian, Xu Yuejuan, Wang Xike, Guo Ying, Xu Rang, Sun Kun, Chen Sun

Abstract excerpt

Hypertrophic cardiomyopathy (HCM), characterized by myocardial hypertrophy, is the most common cause of sudden cardiac arrest in young individuals. More than 270 mutations have been found to be responsible for familial HCM to date; mutations in MYH7, which encodes the β-myosin heavy chain (β-MHC) and MYBPC3, which encodes the myosin binding protein C, are seen most often. This study aimed to screen a pathogenic...

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

Share to Cardiomyopathy, Hypertrophic, Familial

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Source

Open in PubMed Open full text

Identifiers

PMID: 24963656
DOI: 10.1089/dna.2014.2483
PMCID: PMC4180301

Genes

MYH7
MYBPC3

Variants

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.

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

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Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.PMID 24963656Read ↗

Whole-exome sequencing identifies rare compound heterozygous mutations in the MYBPC3 gene associated with severe familial hypertrophic cardiomyopathy.Semantic proximity Read ↗

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

Asn391Thr Mutation of β-Myosin Heavy Chain in a Hypertrophic Cardiomyopathy Family.Semantic proximity Read ↗

Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.Semantic proximity Read ↗

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

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

Molecular Genetic Basis of Hypertrophic Cardiomyopathy.Semantic proximity Read ↗

A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.Semantic proximity Read ↗

Molecular Diagnosis of Hypertrophic Cardiomyopathy (HCM): In the Heart of Cardiac DiseaseSemantic proximity Read ↗

Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.Semantic proximity Read ↗

Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance.Semantic proximity Read ↗

Whole-exome sequencing reveals a likely pathogenic LMNA variant causing hypertrophic cardiomyopathy.Semantic proximity Read ↗

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