SEPN1 related myopathy (SEPN1 RM)
Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .
SEPN1 related myopathy (SEPN1 RM). This is caused by mutations in the Selenoprotein N gene. Fully referenced neurology checklist.
Genetics
- This is caused by mutations in the Selenoprotein N gene
- The onset is in the first 2 years of life
Types
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Clinical features
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Muscle biopsy
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Muscle MRI
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Treatment
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Outcome
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Poor prognostic features
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References
- Schara U, Kress W, Bönnemann CG, et al. The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy. Eur J Paediatr Neurol 2008; 12:224-230.
- Scoto M, Cirak, Mein R, et al. SEPN1-related myopathies: clinical core in a large cohort of patients. Neurology 2011; 76:2073-2078.
- Villar-Quiles RN, von der Hagen M, Métay C, et al. The clinical, histologic, and genotypic spectrum of SEPN1-related myopathy: a case series. Neurology 2020; 95:e1512-e1527.
- Ferreiro A, Quijano-Roy S, Pichereau C, et al. Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies. Am J Hum Genet 2002; 71:739-749.
- Jungbluth H. Multi-minicore Disease. Orphanet J Rare Dis 2007; 2:31.
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