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Updated: Jul 3, 2026

Why Quantification Matters: Characterization of Phenotypes at the Drosophila Larval Neuromuscular Junction
Published on: May 12, 2016
Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes
Genri Kawahara1, Megumu Ogawa, Mari Okada
1Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, Tokyo, Japan.
Abstract:
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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