ArticleJournal of neuromuscular diseases2023
MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO).
Article in Journal of neuromuscular diseases, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers, 1 of them a synthesis that pooled it.
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Who cites it
5 citing papers in PubMed, 1 synthesis or guideline pooled it.
- 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
- Immune-related diagnostic indicators and targeted therapies for COPD combined with NASH were identified and verified via WGCNA and LASSO.Frontiers in immunology · 2025Article
Corrections and comments
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Authors and funding
12 authors.
Funding
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Abstract
Chronic progressive external ophthalmoplegia (CPEO) is symptom complex with progressive ptosis and restricted ocular motility without diplopia. MYH2 myopathy is rare disorder presenting with CPEO and muscle weakness. We report two Indian patients of MYH2 myopathy with unique features. Patient-1 presented with early adult-onset esophageal reflux followed by, proximal lower limb weakness, proptosis, CPEO without ptosis. He had elevated creatine kinase along with characteristic muscle MRI findings of prominent semitendinosus and medial gastrocnemius involvement. Patient -2 presented with early adult onset CPEO without limb weakness. His creatine kinase was normal. Both the patients had novel MYH2 mutations: a homozygous 5'splice variation in intron 4 (c.348 + 2dup) in patient 1 and homozygous single base pair deletion in exon 32 (p. Ala1480ProfsTer11) in patient 2. Unique features noted include adult onset, isolated CPEO, proptosis, esophageal reflux disease and absence of skeletal abnormalities. MYH2 myopathy has to be considered in adult patients with CPEO.
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