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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome |
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| 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 |
| Affiliation: | Institute of Molecular Medicine, The John Radcliffe, Headington, Oxford, UK. |
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