[HTML][HTML] COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy

TC Pan, RZ Zhang, D Markova, M Arita, Y Zhang… - Journal of Biological …, 2013 - ASBMB
Collagen VI is a ubiquitously expressed extracellular microfibrillar protein. Its most common
molecular form is composed of the α1 (VI), α2 (VI), and α3 (VI) collagen α chains encoded by
the COL6A1, COL6A2, and COL6A3 genes, respectively. Mutations in any of the three
collagen VI genes cause congenital muscular dystrophy types Bethlem and Ullrich as well
as intermediate phenotypes characterized by muscle weakness and connective tissue
abnormalities. The α3 (VI) collagen α chain has much larger N-and C-globular domains than …