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Article

[Selenoprotein-related muscular dystrophy].

Ugeskrift for laeger - 28 Nov 2011

Hansen Lars Kjærsgaard, Schrøder Henrik, Ousager Lilian

Abstract excerpt

A nine year-old girl with selenoprotein-related muscular dystrophy was diagnosed. The primary symptom was weak neck muscles. During childhood she developed a rigid spine and over a period of a few years a severe scoliosis. She was compound heterozygote for a mutation in the SEPN1 gene. Experimental treatment with N-acetylcystein for a period of two years was initiated.

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Source

Identifiers

PMID: 22118657

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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[Selenoprotein-related muscular dystrophy].PMID 22118657Read ↗

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[Rigid spine congenital muscular dystrophy produced by SEPN1 mutations (RSMD1)].Semantic proximity Read ↗

Selenoprotein N deficiency in mice is associated with abnormal lung development.Semantic proximity Read ↗

Unravelling the role of ascorbic acid and ER stress in SEPN1-related myopathySemantic proximity Read ↗

[Selenoprotein-related myopathy in a patient with old-age-onset type 2 respiratory failure: a case report].Semantic proximity Read ↗

The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathy.Semantic proximity Read ↗

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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.Semantic proximity Read ↗

Molecular mechanism of rigid spine with muscular dystrophy type 1 caused by novel mutations of selenoprotein N gene.Semantic proximity Read ↗

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