ArticleHuman mutation2014
Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.
Article in Human mutation, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 42 papers.
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Who cites it
42 citing papers in PubMed, 98 citations in OpenAlex.
- A song of heads and tails: myosin II conformational regulation and filament dynamics shape force generation in non-muscle cells.Biophysical reviews · 2026Review
- Genome-wide association and integrative analyses of relative handgrip strength identify polygenic determinants of gastrointestinal disorder susceptibility.BMC gastroenterology · 2026Article
- Genetics in Hypertrophic Cardiomyopathy: An Evolving Clinical Landscape.Cardiac failure review · 2026Review
- Article
- Clinical features, mutation spectrum and factors related to reaching molecular diagnosis in a cohort of patients with distal myopathies.Journal of neurology · 2025Article
- Article
- A Laing distal myopathy-associated proline substitution in the β-myosin rod perturbs myosin cross-bridging activity.The Journal of clinical investigation · 2024Article
- Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.Annals of clinical and translational neurology · 2024Article
- MYH7 in cardiomyopathy and skeletal muscle myopathy.Molecular and cellular biochemistry · 2024Review
- A novel heterozygous missense MYH7 mutation potentially causes an autosomal dominant form of myosin storage myopathy with dilated cardiomyopathy.BMC cardiovascular disorders · 2023Article
- Low-frequency maternal novel MYH7 mosaicism mutation in recurrent fetal-onset severe left ventricular noncompaction: a case report.Frontiers in pediatrics · 2023Article
- 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.Orphanet journal of rare diseases · 2022Review
- Adult-Onset Sandhoff Disease in a Filipino Patient: Asymmetric Weakness, WholeNeurology. Genetics · 2022Article
- Dominant Distal Myopathy 3 (MPD3) Caused by a Deletion in theNeurology. Genetics · 2021Article
- Molecular and cellular basis of genetically inherited skeletal muscle disorders.Nature reviews. Molecular cell biology · 2021Review
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- Congenital fiber-type disproportion presenting with type II respiratory failure after delivery: A case report.World journal of clinical cases · 2021Article
- Clinical features and genotypes of Laing distal myopathy in a group of Chinese patients, with in-frame deletions of MYH7 as common mutations.Orphanet journal of rare diseases · 2020Article
- Update on Congenital Myopathies in Adulthood.International journal of molecular sciences · 2020Review
- Laing early-onset distal myopathy with subsarcolemmal hyaline bodies caused by a novel variant in theActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology · 2020Article
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Authors and funding
30 authors at 20 institutions in 8 countries.
Funding
Abstract
Laing early onset distal myopathy and myosin storage myopathy are caused by mutations of slow skeletal/β-cardiac myosin heavy chain encoded by the gene MYH7, as is a common form of familial hypertrophic/dilated cardiomyopathy. The mechanisms by which different phenotypes are produced by mutations in MYH7, even in the same region of the gene, are not known. To explore the clinical spectrum and pathobiology, we screened the MYH7 gene in 88 patients from 21 previously unpublished families presenting with distal or generalized skeletal muscle weakness, with or without cardiac involvement. Twelve novel mutations have been identified in thirteen families. In one of these families, the father of the proband was found to be a mosaic for the MYH7 mutation. In eight cases, de novo mutation appeared to have occurred, which was proven in four. The presenting complaint was footdrop, sometimes leading to delayed walking or tripping, in members of 17 families (81%), with other presentations including cardiomyopathy in infancy, generalized floppiness, and scoliosis. Cardiac involvement as well as skeletal muscle weakness was identified in nine of 21 families. Spinal involvement such as scoliosis or rigidity was identified in 12 (57%). This report widens the clinical and pathological phenotypes, and the genetics of MYH7 mutations leading to skeletal muscle diseases.
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