| First Author | Moghadaszadeh B | Year | 2001 |
| Journal | Nat Genet | Volume | 29 |
| Issue | 1 | Pages | 17-8 |
| PubMed ID | 11528383 | Mgi Jnum | J:71544 |
| Mgi Id | MGI:2150287 | Doi | 10.1038/ng713 |
| Citation | Moghadaszadeh B, et al. (2001) Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome. Nat Genet 29(1):17-8 |
| abstractText | 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. |
