Article Text

Download PDFPDF
Collagen VI related muscle disorders
  1. A K Lampe,
  2. K M D Bushby
  1. Institute of Human Genetics, University of Newcastle upon Tyne, Newcastle upon Tyne, UK
  1. Correspondence to:
 Dr Anne Lampe
 Institute of Human Genetics, University of Newcastle upon Tyne, International Centre for Life, Central Parkway, Newcastle upon Tyne, NE1 3BZ;


Mutations in the genes encoding collagen VI (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD), two conditions which were previously believed to be completely separate entities. BM is a relatively mild dominantly inherited disorder characterised by proximal weakness and distal joint contractures. UCMD was originally described as an autosomal recessive condition causing severe muscle weakness with proximal joint contractures and distal hyperlaxity. Here we review the clinical phenotypes of BM and UCMD and their diagnosis and management, and provide an overview of the current knowledge of the pathogenesis of collagen VI related disorders.

  • BM, Bethlem myopathy
  • CMD, congenital muscular dystrophy
  • UCMD, Ullrich congenital muscular dystrophy
  • vWF, von Willebrand factor
  • collagen VI
  • Bethlem myopathy
  • Ullrich congenital muscular dystrophy
  • congenital muscular dystrophy

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • Competing interests: none declared