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Early onset myopathy with a novel mutation in the Selenoprotein N gene (SEPN1)
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.ORCID-id: 0000-0001-8854-5213
The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Göteborg, Sweden.
The Queen Silvia Children's Hospital, Sahlgrenska University Hospital, Göteborg, Sweden.
Department of Pathology, Sahlgrenska University Hospital, Göteborg, Sweden.
2005 (Engelska)Ingår i: Neuromuscular Disorders, ISSN 0960-8966, E-ISSN 1873-2364, Vol. 15, nr 4, s. 299-302Artikel i tidskrift (Refereegranskat) Published
Abstract [en]

Mutations in SEPN1 have been associated with three autosomal recessive congenital myopathies, including rigid spine muscular dystrophy, multiminicore disease and desmin-related myopathy with Mallory body-like inclusions. These disorders constitute the SEPN1 related myopathies (SEPN-RM). On the basis of clinical and laboratory features compatible with SEPN-RM, we performed mutation analysis of SEPN1 in 11 unrelated patients and found one case with pathogenic mutations. He showed early onset axial muscle weakness and developed scoliosis with respiratory insufficiency. Muscle biopsy showed increased variability of fiber size and slight, focal increase of connective tissue. A few fibers showed mini-core changes. SEPN1 mutation analysis revealed that the patient was a compound heterozygote: a previously described insertion (713-714 insA), and a novel nonsense mutation (R439stop).

Ort, förlag, år, upplaga, sidor
Elsevier, 2005. Vol. 15, nr 4, s. 299-302
Nationell ämneskategori
Neurologi
Forskningsämne
Medicin
Identifikatorer
URN: urn:nbn:se:his:diva-11977DOI: 10.1016/j.nmd.2004.11.004ISI: 000228495000006PubMedID: 15792869Scopus ID: 2-s2.0-15944414798OAI: oai:DiVA.org:his-11977DiVA, id: diva2:907126
Tillgänglig från: 2016-02-26 Skapad: 2016-02-26 Senast uppdaterad: 2017-11-30Bibliografiskt granskad

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