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last update : 7/09/2006
Symbol RSMD1
Location 1p36-p35
Name rigid spine muscular dystrophy 1
Other name(s)
  • muscular dystrophy, congenital, merosine-positive, with early spine rigidity . muscular dystrophy, congenital, Eichsfeld type
  • Corresponding gene SEPN1
    Other symbol(s) RCMD, MDRS1
    Main clinical features
  • congenital muscular dystrophy , early onset, with early rigidity of the spine, characterized by marked limitation in flexion of the whole dorsolumbar and cervical spine, owing to contracture of the spinal extensors and leading to loss of movement of the spine and the thoracic cage with restrictive respiratory syndrome, and at the biopsy, Mallory body-like inclusions in muscle fibers composed of granular material and 2 types of filaments
  • Genetic determination autosomal recessive
    Related entries . including multiminicore disease and desmin-related myopathy with Mallory bodies
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name selenoprotein N1
    Gene mutationChromosome rearrangementEffectComments
    deletion     homozygous deletion (del 92 nucleotide -19/+73)