Abstract
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) |
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Pages (from-to) | 10293-10307 |
Number of pages | 15 |
Journal | Journal of Biological Chemistry |
Volume | 289 |
Issue number | 15 |
DOIs | |
State | Published - Apr 11 2014 |
ASJC Scopus subject areas
- Molecular Biology
- Biochemistry
- Cell Biology