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Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.
- Source :
- Journal of Veterinary Internal Medicine; Mar/Apr2017, Vol. 31 Issue 2, p532-538, 7p
- Publication Year :
- 2017
-
Abstract
- Musladin-Lueke syndrome ( MLS), previously termed Chinese Beagle syndrome, is an autosomal-recessive connective tissue disorder characterized by extensive fibrosis of the skin and joints that was first identified in Beagles in the 1970s. Recent research identified a founder mutation (c.660C>T; p.R221C) in the ADAMTSL2 gene in Beagles with MLS. Here, we report the detailed clinical phenotype and laboratory findings in 2 Beagles affected with MLS. We discuss these findings in relation to the human disorder geleophysic dysplasia ( GD), which also arises from recessive ADAMTSL2 mutations, and recent findings in Adamtsl2-deficient mice. [ABSTRACT FROM AUTHOR]
Details
- Language :
- English
- ISSN :
- 08916640
- Volume :
- 31
- Issue :
- 2
- Database :
- Complementary Index
- Journal :
- Journal of Veterinary Internal Medicine
- Publication Type :
- Academic Journal
- Accession number :
- 121878008
- Full Text :
- https://doi.org/10.1111/jvim.14654