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- Title
Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.
- Authors
Moghadaszadeh, B; Petit, N; Jaillard, C; Brockington, M; Quijano Roy, S; Merlini, L; Romero, N; Estournet, B; Desguerre, I; Chaigne, D; Muntoni, F; Topaloglu, H; Guicheney, P
- Abstract
One form of congenital muscular dystrophy, rigid spine syndrome (MIM 602771), is a rare neuromuscular disorder characterized by early rigidity of the spine and respiratory insufficiency. A locus on 1p35-36 (RSMD1) was recently found to segregate with rigid spine muscular dystrophy 1 (ref. 1). Here we refine the locus and find evidence of linkage disequilibrium associated with SEPN1, which encodes the recently described selenoprotein N (ref. 2). Our identification and analysis of mutations in SEPN1 is the first description of a selenoprotein implicated in a human disease.
- Publication
Nature genetics, 2001, Vol 29, Issue 1, p17
- ISSN
1061-4036
- Publication type
Journal Article
- DOI
10.1038/ng713