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

Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene.

European journal of neurology - 1 Jun 2014

Díaz-Manera J, Alejaldre A, Llauger J, Mirabet S, Rojas-García R, Ramos-Fransi A, Gallardo E, Illa I

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Cardiac Myosins
Share to Cardiomyopathy, Hypertrophic
Share to MYH7 gene
Share to Muscular Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Myosin Heavy Chains

Source

Identifiers

PMID: 24805292
DOI: 10.1111/ene.12416

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cranial, axial and proximal myopathy and hypertrophic cardiomyopathy caused by a mutation in the globular head region of the MYH7 gene.PMID 24805292Read ↗

A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy.Semantic proximity Read ↗

Cardiomyopathy: a systematic review of disease-causing mutations in myosin heavy chain 7 and their phenotypic manifestations.Semantic proximity Read ↗

New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.Semantic proximity Read ↗

MYH7 in cardiomyopathy and skeletal muscle myopathy.Semantic proximity Read ↗

MYH7-related disorders in two Bulgarian families: Novel variants in the same region associated with different clinical manifestation and disease penetrance.Semantic proximity Read ↗

MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.Semantic proximity Read ↗

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report.Semantic proximity Read ↗

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.Semantic proximity Read ↗

[Hypertrophic cardiomyopathy: New pathogenic variant in MYH7].Semantic proximity Read ↗

[Phenotype and genotype characteristics of children with cardiomyopathy associated with MYH7 gene mutation: a retrospective analysis].Semantic proximity Read ↗

Homozygous mutation in MYH7 in myosin storage myopathy and cardiomyopathy.Semantic proximity Read ↗

Novel mutation in MYH7 gene associated with distal myopathy and cardiomyopathy.Semantic proximity Read ↗

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