ArticleNeuromuscular disorders : NMD2013
A new de novo missense mutation in MYH2 expands clinical and genetic findings in hereditary myosin myopathies.
Article in Neuromuscular disorders : NMD, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 23 citations in OpenAlex.
- Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.Journal of neuromuscular diseases · 2026Pooled it
- Arthrogryposis Multiplex Congenita: Comprehensive Review from a Neuromuscular Standpoint.Genes · 2026Review
- Article
- A new MYH2 variant in an Italian patient expanding the clinical spectrum of MYH2-related myopathy.BMC neurology · 2026Article
- MYH2-associated myopathy caused by novel compound heterozygous mutations: a case report and literature review.Journal of human genetics · 2025Review
- A genetic variant inScience advances · 2025Article
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.BMC neurology · 2022Article
- Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype.Acta neuropathologica communications · 2021Article
- MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.Molecular genetics & genomic medicine · 2020Article
- An E321G MYH1 mutation is strongly associated with nonexertional rhabdomyolysis in Quarter Horses.Journal of veterinary internal medicine · 2018Article
- Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.Neuromuscular disorders : NMD · 2018Article
- Clinical remission of myopathy with MYH2 deficiency after precision medicine-developed rehabilitation: a case report.American journal of translational research · 2018Article
- A novel MYH2 mutation in family members presenting with congenital myopathy, ophthalmoplegia and facial weakness.Journal of neurology · 2016Article
- Pathophysiological concepts in the congenital myopathies: blurring the boundaries, sharpening the focus.Brain : a journal of neurology · 2015Review
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Congenital myopathy related to mutations in myosin MyHC IIa gene (MYH2) is a rare neuromuscular disease. A single dominant missense mutation has been reported so far in a family in which the affected members had congenital joint contractures at birth, external ophthalmoplegia and proximal muscle weakness. Afterward only additional 4 recessive mutations have been identified in 5 patients presenting a mild non-progressive early-onset myopathy associated with ophthalmoparesis. We report a new de novo MYH2 missense mutation in a baby affected by a congenital myopathy characterized by severe dysphagia, respiratory distress at birth and external ophthalmoplegia. We describe clinical, histopathological and muscle imaging findings expanding the clinical and genetic spectrum of MYH2-related myopathy.
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Registered trials
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