Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond.

Abstract excerpt

Mutations in the three canonical collagen VI genes, COL6A1, COL6A2 and COL6A3, cause a spectrum of muscle disease from Bethlem myopathy at the mild end to the severe Ullrich congenital muscular dystrophy. Mutations can be either dominant or recessive and the resulting clinical severity is influenced by the way mutations impact the complex collagen VI assembly process. Most mutations are found towards the...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Collagen Type VI
• Share to Extracellular Matrix
• Share to Genes, Dominant