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Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present.
Biomarker and diagnostic research for SELENON-related myopathy has been reported in the published literature.
1 clinical trial registered. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.
8 publications have been identified in PubMed for SELENON-related myopathy. Research spans Case Report / Case Series (50%), Other (13%), and Diagnostic / Biomarker (13%).
Shimazaki R (2026). [PMID: 41978334](https://pubmed.ncbi.nlm.nih.gov/41978334/). *Muscle Nerve*. [Diagnostic / Biomarker]
Baba Y (2025). [PMID: 39864868](https://pubmed.ncbi.nlm.nih.gov/39864868/). *Rinsho Shinkeigaku*. [Case Report / Case Series]
Risi B (2025). [PMID: 39980054](https://pubmed.ncbi.nlm.nih.gov/39980054/). *J Med Case Rep*. [Case Report / Case Series]
Retini M (2025). [PMID: 41270850](https://pubmed.ncbi.nlm.nih.gov/41270850/). *Pharmacol Res*. [Gene Therapy / Novel Therapeutics]
Alhajaji R (2025). [PMID: 40881152](https://pubmed.ncbi.nlm.nih.gov/40881152/). *Respirol Case Rep*. [Case Report / Case Series]
Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC
Common questions about SELENON-related myopathy
de Laat ECM (2024). [PMID: 39443859](https://pubmed.ncbi.nlm.nih.gov/39443859/). *BMC Neurol*. [Epidemiology / Natural History]
Bouman K (2024). [PMID: 39177608](https://pubmed.ncbi.nlm.nih.gov/39177608/). *J Neuromuscul Dis*. [Case Report / Case Series]
de Laat ECM (2024). [PMID: 39681838](https://pubmed.ncbi.nlm.nih.gov/39681838/). *BMC Neurol*. [Other]
AI-curated news mentioning SELENON-related myopathy
Updated Aug 1, 2026
A 1.5-year natural history study evaluates clinical and functional outcome measures in patients with LAMA2-related muscular dystrophy and SELENON-related myopathy. This research contributes to understanding disease progression and potential therapeutic targets.