Back to matchesWe found a matchYour institution may have access to this item. Find your institution then sign in to continue.TitleMutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.AuthorsMoghadaszadeh 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 PPublicationNature genetics, 2001, Vol 29, Issue 1, p17ISSN1061-4036Publication typearticleDOI10.1038/ng713