ArticleEuropean journal of human genetics : EJHG2014
Recessive myosin myopathy with external ophthalmoplegia associated with MYH2 mutations.
Article in European journal of human genetics : EJHG, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
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Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it, 45 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
- Article
- Comparative Analysis of Meat Quality and Muscle Transcriptome between Landrace and Jeju Native Pig.Food science of animal resources · 2025Article
- Parp3 assists muscle function and skeletal muscle differentiation by selectively adjusting H3K27me3 enrichment.iScience · 2025Article
- A genetic variant inScience advances · 2025Article
- A Case of a Patient WithTremor and other hyperkinetic movements (New York, N.Y.) · 2024Article
- Modulating fast skeletal muscle contraction protects skeletal muscle in animal models of Duchenne muscular dystrophy.The Journal of clinical investigation · 2023Article
- Inclusion body myositis: from genetics to clinical trials.Journal of neurology · 2023Review
- Dominantly inherited myosin IIa myopathy caused by aberrant splicing of MYH2.BMC neurology · 2022Article
- Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function.Science (New York, N.Y.) · 2022Article
- Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study.Acta neuropathologica communications · 2022Article
- Sarcotubular Myopathy Due to NovelBrain sciences · 2021Article
- Enhancement of myogenic differentiation and inhibition of rhabdomyosarcoma progression by miR-28-3p and miR-193a-5p regulated by SNAIL.Molecular therapy. Nucleic acids · 2021Article
- 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
- A new congenital multicore titinopathy associated with fast myosin heavy chain deficiency.Annals of clinical and translational neurology · 2020Article
- Defective sarcomere organization and reduced larval locomotion and fish survival in slow muscle heavy chain 1 (smyhc1) mutants.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2020Article
- Epigenetically dysregulated genes and pathways implicated in the pathogenesis of non-syndromic high myopia.Scientific reports · 2019Article
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Authors and funding
15 authors at 8 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myosin myopathies comprise a group of inherited diseases caused by mutations in myosin heavy chain (MyHC) genes. Homozygous or compound heterozygous truncating MYH2 mutations have been demonstrated to cause recessive myopathy with ophthalmoplegia, mild-to-moderate muscle weakness and complete lack of type 2A muscle fibers. In this study, we describe for the first time the clinical and morphological characteristics of recessive myosin IIa myopathy associated with MYH2 missense mutations. Seven patients of five different families with a myopathy characterized by ophthalmoplegia and mild-to-moderate muscle weakness were investigated. Muscle biopsy was performed to study morphological changes and MyHC isoform expression. Five of the patients were homozygous for MYH2 missense mutations, one patient was compound heterozygous for a missense and a nonsense mutation and one patient was homozygous for a frame-shift MYH2 mutation. Muscle biopsy demonstrated small or absent type 2A muscle fibers and reduced or absent expression of the corresponding MyHC IIa transcript and protein. We conclude that mild muscle weakness and ophthalmoplegia in combination with muscle biopsy demonstrating small or absent type 2A muscle fibers are the hallmark of recessive myopathy associated with MYH2 mutations.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.