ArticleMolecular genetics & genomic medicine2020
MYH2 myopathy, a new case expands the clinical and pathological spectrum of the recessive form.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers, 1 of them a synthesis that pooled it.
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Who cites it
12 citing papers in PubMed, 1 synthesis or guideline pooled it, 17 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
- Parp3 assists muscle function and skeletal muscle differentiation by selectively adjusting H3K27me3 enrichment.iScience · 2025Article
- Immune-related diagnostic indicators and targeted therapies for COPD combined with NASH were identified and verified via WGCNA and LASSO.Frontiers in immunology · 2025Article
- A Case of a Patient WithTremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Automatic Text-Mining Approach to Identify Molecular Target Candidates Associated with Metabolic Processes for Myotonic Dystrophy Type 1.International journal of environmental research and public health · 2023Article
- Background and roles: myosin in autoimmune diseases.Frontiers in cell and developmental biology · 2023Review
- MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).Journal of neuromuscular diseases · 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
Corrections and comments
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Authors and funding
13 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundHereditary myosin myopathies are a group of rare muscle disorders, caused by mutations in genes encoding for skeletal myosin heavy chains (MyHCs). MyHCIIa is encoded by MYH2 and is expressed in fast type 2A and 2B muscle fibers. MYH2 mutations are responsible for an autosomal dominant (AD) progressive myopathy, characterized by the presence of rimmed vacuoles and by a reduction in the number and size of type 2A fibers, and a recessive early onset myopathy characterized by complete loss of type 2A fibers. Recently, a patient with a homozygous mutation but presenting a dominant phenotype has been reported.
methodsThe patient was examined thoroughly and two muscle biopsies were performed through the years. NGS followed by confirmation in Sanger sequencing was used to identify the genetic cause.
resultsWe describe the second case presenting with late-onset ophthalmoparesis, ptosis, diffuse muscle weakness, and histopathological features typical for AD forms but with a recessive MYH2 genotype.
conclusionThis report contributes to expand the clinical and genetic spectrum of MYH2 myopathies and to increase the awareness of these very rare diseases.
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