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

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


  • 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


Nature genetics

Publication Data

September 30, 2001

Associated Grants


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