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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-08-2014
Symbol CNM5
Location 2q35
Name centronuclear myopathy-5
Corresponding gene SPEG
Main clinical features
  • congenital myopathy characterized by severe neonatal hypotonia with respiratory insufficiency and difficulty feeding, with severely delayed motor development, mental retardation
  • some patients die in infancy, and some develop dilated cardiomyopathy
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    Type disease