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References OMIM Gene GeneReviews HGMD HGNC
last update : 18-02-2012
Symbol CFTD2
Location 1p36.13
Name congenital fibre type disproportion 2
Other name(s) selenoprotein N-related myopathy
Corresponding gene SEPN1
Other symbol(s) SEPN1-RM
Main clinical features
  • early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with spinal rigidity
  • congenital myopathy in which relative hypotrophy of type 1 (slow twitch) muscle fibers is the principal abnormality on histology
  • congenital hypotonia, generalized weakness, and failure to thrive, long, thin face, scoliosis, high-arched palate, and multiple joint contractures associated to insulin resistance
  • respiratory insufficiency generally develops by 14 years but may occur as early as in infancy or not until the fourth decade; motor abilities remain essentially static over time even in patients with early presentation (PMID: 21670436))
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease