Collagen type VI and related disorders: Bethlem myopathy and Ullrich scleroatonic muscular dystrophy

Eur J Paediatr Neurol. 2002;6(4):193-8. doi: 10.1053/ejpn.2002.0593.
No abstract available

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Alternative Splicing / genetics
  • Collagen Type VI / biosynthesis
  • Collagen Type VI / genetics*
  • DNA Mutational Analysis
  • Diagnosis, Differential
  • Gene Expression / genetics
  • Gene Expression Regulation / genetics
  • Humans
  • Muscle Tonus / physiology*
  • Muscle, Skeletal / pathology*
  • Muscle, Skeletal / physiopathology*
  • Muscular Dystrophies* / genetics
  • Muscular Dystrophies* / pathology
  • Muscular Dystrophies* / physiopathology
  • Phenotype
  • Point Mutation / genetics*
  • Sclerosis / genetics
  • Sclerosis / pathology

Substances

  • Collagen Type VI