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

doi:10.1136/jnnp-2024-334263

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

Community

Back to search

Article

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

Journal of neurology, neurosurgery, and psychiatry - 10 Apr 2025

Bahout Marie, Severa Gianmarco, Kamoun Emna, Bouhour Françoise, Pegat Antoine, Toutain Annick, Lagrange Emmeline, Duval Fanny, Tard Celine, De la Cruz Elisa, Féasson Léonard, Jacquin-Piques Agnès, Richard Pascale, Métay Corinne, Cavalli Michele, Romero Norma Beatriz, Evangelista Teresinha, Sole Guilhem, Carlier Robert Yves, Laforêt Pascal, Acket Blandine, Behin Anthony, Fernández-Eulate Gorka, Léonard-Louis Sarah, Quijano-Roy Susana, Pereon Yann, Salort-Campana Emmanuelle, Nadaj-Pakleza Aleksandra, Masingue Marion, Malfatti Edoardo, Stojkovic Tanya, Villar-Quiles Rocío Nur

Abstract excerpt

BACKGROUND: Myosin heavy chain 7 (MYH7)-related myopathies (MYH7-RMs) are a group of muscle disorders linked to pathogenic variants in the MYH7 gene, encoding the slow/beta-cardiac myosin heavy chain, which is highly expressed in skeletal muscle and heart. The phenotype is heterogeneous including distal, predominantly axial or scapuloperoneal myopathies with variable cardiac involvement. METHODS: We...

Read the complete abstract on PubMed

Topics

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

Share to Cardiac Myosins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cohort Studies

Share to France

Share to Magnetic Resonance Imaging

Share to Muscle, Skeletal

Share to Muscular Diseases

Share to Myosin Heavy Chains

Share to Young Adult

Source

Open in PubMed Open full text

Identifiers

PMID: 39448255
DOI: 10.1136/jnnp-2024-334263
PMCID: PMC12015026

Genes

MYH7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.PMID 39448255Read ↗

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.Semantic proximity Read ↗

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report.Semantic proximity Read ↗

Hereditary myosin myopathies.Semantic proximity Read ↗

MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.Semantic proximity Read ↗

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

Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.Semantic proximity Read ↗

MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.Semantic proximity Read ↗

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 ↗

Distal myosin heavy chain-7 myopathy due to the novel transition c.5566G>A (p.E1856K) with high interfamilial cardiac variability and putative anticipation.Semantic proximity Read ↗

MYH7 mutation associated with two phenotypes of myopathy.Semantic proximity Read ↗

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies.Semantic proximity Read ↗

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