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last update : 09-06-2010
Symbol UCMD3
Location 21q22.3
Name Ullrich congenital muscular dystrophy 3
Other name(s)
  • muscular dystrophy scleroatonic
  • Ullrich disease
  • Corresponding gene COL6A1
    Main clinical features
  • muscle weakness and multiple proximal joint contractures at birth or in early infancy, limitation of motility in axial and proximal joints, hyperextensibility in distal joints
  • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name collagen type 6 alpha 1
    Gene mutationChromosome rearrangementEffectComments
          gly290arg found in Bethlem myopathy and UCMD3
    Genotype/Phenotype correlations
  • heterozygous glycine substitutions in the triple-helix domain of COL6A1 are dominant and responsible for a milder Ullrich scleroatonic muscular dystrophy phenotype
  • recessive mutations in COL6A1 correlate with more severe clinical and biochemical Ullrich scleroatonic muscular dystrophy phenotypes