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References OMIM Gene GeneReviews HGMD HGNC
last update : 27-10-2011
Symbol MDDGC3
Location 1p34.1
Name muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3
Other name(s)
  • muscular dystrophy, limb-girdle, type 2O
  • Corresponding gene POMGNT1
    Other symbol(s) LGMD2O
    Main clinical features
  • limb-girdle muscular dystrophy with normal cognition
  • in infancy, proximal limb muscle weakness, difficulty rising from a sitting position and climbing stairs, lordosis and tightening of the Achilles tendon; muscle biopsy showed dystrophic changes with variable staining for glycosylated alpha-dystroglycan
  • Genetic determination autosomal recessive
    Function/system disorder neuromuscular
    Type disease