Journal
MUSCLE & NERVE
Volume 38, Issue 3, Pages 1192-1195Publisher
WILEY-BLACKWELL
DOI: 10.1002/mus.21030
Keywords
collagen VI; extracellular matrix; myotube; triple helical domain; Ullrich congenital muscular dystrophy
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Funding
- Ministry of Health, Labour and Welfare [17A-10, 19A-7]
- Japan Society for the Promotion of Science
- Promotion of Fundamental Studies in Health Sciences of the National Institute of Biomedical Innovation (NIBIO)
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In Ullrich congenital muscular dystrophy, due to heterozygous mutations in COL6 genes, Collagen VI is preserved in the interstitium but lost in the sarcolemma. We found that the binding ability of mutated collagen VI to extracellular matrix was markedly reduced compared to control. This indicates that heterozygous mutations in COL6 genes diminish the anchorage of collagen VI microfibrils to the extracellular matrix surrounding myocytes. This is the cause for sarcolemma-specific Collagen VI deficiency.
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