SELENON-related myopathy as a cause of acute respiratory failure in middle age: a case report
SELENON-related myopathy as a cause of acute respiratory failure in middle age: a case report
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Publisher
England: BioMed Central Ltd
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Language
English
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Publisher
England: BioMed Central Ltd
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Contents
SELENON-related myopathy is a rare autosomal recessive congenital neuromuscular disorder linked to defects in the selenoprotein N. The clinical onset typically occurs in infancy and axial weakness, rigid spine, and respiratory involvement are almost invariably present at early stages.
We report the case of a 44-year-old Italian woman who underwe...
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Full title
SELENON-related myopathy as a cause of acute respiratory failure in middle age: a case report
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TN_cdi_doaj_primary_oai_doaj_org_article_15ec7aabadba4e6794fd0745d3c5004c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_15ec7aabadba4e6794fd0745d3c5004c
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ISSN
1752-1947
E-ISSN
1752-1947
DOI
10.1186/s13256-025-05077-6
