Article
COL6A3 protein deficiency in mice leads to muscle and tendon defects similar to human collagen VI congenital muscular dystrophy.
The Journal of biological chemistry - 17 May 2013
Pan Te-Cheng, Zhang Rui-Zhu, Markova Dessislava, Arita Machiko, Zhang Yejia, Bogdanovich Sasha, Khurana Tejvir S, Bönnemann Carsten G, Birk David E, Chu Mon-Li
Abstract excerpt
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...
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