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last update : 27-08-2009
Symbol CFTD1
Location 1q42.13
Name congenital fibre type disproportion 1
Corresponding gene ACTA1
Main clinical features
  • severe congenital weakness and respiratory failure without ophthalmoplegia, congenital hypotonia, and failure to thrive, with hypotrophy of type 1 muscle fibers compared to type 2 fibers on skeletal muscle biopsy
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Remark(s) mutations cause weakness by disrupting sarcomere function rather than structure (Clarke 2007)