Collagen type VI myopathies.

Abstract excerpt

Mutations in each of the three collagen VI genes COL6A1, COL6A2 and COL6A3 cause two main types of muscle disorders: Ullrich congenital muscular dystrophy, a severe phenotype, and a mild to moderate phenotype Bethlem myopathy. Recently, two additional phenotypes, including a limb-girdle muscular dystrophy phenotype and an autosomal recessive myosclerosis reported in one family with mutations in COL6A2 have been...

Topics

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

• Share to Cartilage
• Share to Collagen Type VI
• Share to Contracture