ArticleNeuromuscular disorders : NMD2018
Homozygous recessive MYH2 mutation mimicking dominant MYH2 associated myopathy.
Article in Neuromuscular disorders : NMD, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers, 1 of them a synthesis that pooled it.
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Who cites it
10 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- Unveiling MYH2-related myopathy: Histological-genetic insights from a case series and systematic review.Journal of neuromuscular diseases · 2026Pooled it
- 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
- Dominantly inherited muscle disorders: understanding their complexity and exploring therapeutic approaches.Disease models & mechanisms · 2024Review
- MYH2-associated myopathy caused by a novel splice-site variant.Neuromuscular disorders : NMD · 2023Article
- 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
- Myosin Myopathy Presenting as Chronic Progressive External Ophthalmoplegia.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
4 authors at 2 institutions in 1 country.
Funding
Abstract
Mutations in MYH2 that encodes myosin heavy chain IIa cause both dominant and recessively inherited myopathies. Patients with dominantly inherited MYH2 missense mutations present with ophthalmoplegia and progressive proximal limb weakness. Muscle biopsy reveals rimmed vacuoles and inclusions, prompting this entity to initially be described as hereditary inclusion body myopathy 3. In contrast, patients with recessive MYH2 mutations have early onset, non-progressive, diffuse weakness and ophthalmoplegia. Muscle biopsy reveals near or complete absence of type 2A fibers with no vacuole or inclusion pathology. We describe a patient with childhood onset ophthalmoplegia, progressive proximal muscle weakness beginning in adolescence, and muscle biopsy with myopathic changes and rimmed vacuoles. Although this patient's disease course and histopathology is consistent with dominant MYH2 mutations, whole exome sequencing revealed a c.737 G>A p.Arg246His homozygous MYH2 variant. These findings expand the clinical and pathologic phenotype of recessive MYH2 myopathies.
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Registered trials
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