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Mutations in SEPN1 cause congenital muscular dystrophy with spinal rigidity and restrictive respiratory syndrome.

Nature genetics | Sep 30, 2001

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.

Pubmed ID: 11528383 RIS Download

Mesh terms: Amino Acid Sequence | Animals | Chromosome Mapping | Chromosomes, Human, Pair 1 | Humans | Lung Diseases | Molecular Sequence Data | Muscle Proteins | Muscular Dystrophies | Mutation | Polymerase Chain Reaction | Polymorphism, Single-Stranded Conformational | Selenoproteins | Sequence Homology, Amino Acid | Spine

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