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Article

New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.

Neurology - 5 Jun 2007

Darin N, Tajsharghi H, Ostman-Smith I, Gilljam T, Oldfors A

Abstract excerpt

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Topics

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Share to Cardiac Myosins
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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17548557
DOI: 10.1212/01.wnl.0000264430.55233.72

Genes

MYH7

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.

Related research

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

Research trail→

Click a neighbor to travelStep 1 · 12 closest

New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7.PMID 17548557Read ↗

A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathiesSemantic proximity Read ↗

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

Novel MYH7 mutation associated with mild myopathy but life-threatening ventricular arrhythmias and noncompaction.Semantic proximity Read ↗

MYH7 in cardiomyopathy and skeletal muscle myopathy.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 ↗

Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2.Semantic proximity Read ↗

A novel MYH7 mutation in a family with cardiomyopathy presenting with restrictive physiology and varying degrees of left ventricle hypertrophy.Semantic proximity Read ↗

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

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

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