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- W2335558082 abstract "Introduction: Selenoprotein N1 (SEPN1)-related myopathies are caused by mutations in the SEPN1 gene and form a group of rare disorders, whose incidence and prevalence is unknown so far. The inheritance is autosomal recessive. The phenotype could be characterised by early muscular hypotonia, poor head control, axial muscle weakness, spinal rigidity with early scoliosis and respiratory distress with nocturnal hypoventilation. Most of the patients show dystrophy with body mass index (BMI) below the 3.rd percentile. Intelligence is mostly normal and weakness is often static or slowly progressive." @default.
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- W2335558082 date "2011-03-01" @default.
- W2335558082 modified "2023-09-26" @default.
- W2335558082 title "SelenoproteinN1-related myopathy: From clinical signs to diagnosis" @default.
- W2335558082 doi "https://doi.org/10.1055/s-0031-1274098" @default.
- W2335558082 hasPublicationYear "2011" @default.
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