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References OMIM Gene GeneReviews HGMD HGNC
last update : 01-08-2009
Symbol CDG1O
Location 1q21.2
Name congenital disorder of glycosylation 1O
Corresponding gene DPM3
Main clinical features
  • mild muscle weakness and waddling gait
  • dilated cardiomyopathy
  • elevated CK (1500 to 3000,) with mildly elevated transaminases ; heart muscle biopsy showed no structural or histological abnormalities, but moderate muscular dystrophy with fiber-size variation, multiple internal nuclei, necrotic fibers, rimmed vacuoles, fiber splitting, and interstitial fibrosis
  • Genetic determination autosomal recessive
    Function/system disorder cardiovascular
    Type disease