Background: Dominant collagen VI gene mutations cause the severe Ullrich congenital muscular dystrophy (UCMD) and mild Bethlem myopathy. Results: A mutant mouse mimicking the most common molecular defect in dominant UCMD patients was generated and characterized. Conclusion: The mutant mouse displays muscle and connective tissue abnormalities. Significance: The mutant mouse provides an animal model for dominant collagen VI disorders.
|Original language||English (US)|
|Number of pages||15|
|Journal||Journal of Biological Chemistry|
|State||Published - Apr 11 2014|
ASJC Scopus subject areas
- Molecular Biology
- Cell Biology