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GENATLAS PHENOTYPE
last update : 25-04-2013
Symbol UCMD2
Location 2q37.3
Name Ullrich congenital muscular dystrophy 2
Other name(s)
  • muscular dystrophy scleroatonic
  • Ullrich disease
    • Corresponding gene COL6A3
    Main clinical features
  • neonatal hypotonia, arthrogryposis, generalized weakness, limb girdle muscular dystrophy, early onset, benign, slowly progressive, with early proximal flexion contractures
    • Genetic determination autosomal recessive
    autosomal dominant
    Function/system disorder neuromuscular
    Type disease
    Gene product
    Name collagen type 6 alpha 3
    Mechanism(s)
    Gene mutationChromosome rearrangementEffectComments
    missense   unknown within the triple helical and N-terminal domains
    deletion   truncated protein shorter chain due to mutated exon
    Remark(s)
  • dominant negative heterozygous splice mutations of COL6A3 (PMID: 18366090))