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Musladin-Lueke syndrome

From Wikipedia, the free encyclopedia

Musladin-Lueke syndrome (previously known as Chinese Beagle syndrome) is ahereditary disorder that affectsbeagles that manifests in extensive fibrosis of the skin and joints. It is named after beagle breeders Anton Musladin and Ada Leuke. It is caused by a number ofrecessivemutations affecting fibrillin-1, a major component ofmicrofibrils.[1] It affects severalorgan systems, including the skeleton, heart, skin, and muscle. According to theAmerican Kennel Club's Canine Health Foundation, "beagles with Musladin-Leuke syndrome are born with several defects characterized by short outer toes on the front and sometimes all four feet, high set creased ears on a flat skull with extra cartilage in them, slant narrowed eyes, and very thick tight skin with little scruff." Affected dogs are usually smaller than average, and have a very stiffgait. Seizures have also been noted in affected dogs.[2]

References

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  1. ^Bader, Hannah L.; Ruhe, Alison L.; Wang, Lauren W.; Wong, Aaron K.; Walsh, Kari F.; Packer, Rebecca A.; Mitelman, Jonathan; Robertson, Kathryn R.; O'Brien, Dennis P.; Broman, Karl W.; Shelton, G. Diane (2010-09-17)."An ADAMTSL2 Founder Mutation Causes Musladin-Lueke Syndrome, a Heritable Disorder of Beagle Dogs, Featuring Stiff Skin and Joint Contractures".PLOS ONE.5 (9) e12817.Bibcode:2010PLoSO...512817B.doi:10.1371/journal.pone.0012817.ISSN 1932-6203.PMC 2941456.PMID 20862248.
  2. ^"AKC Canine Health Foundation | Musladin-Leuke Syndrome".www.akcchf.org. Retrieved2021-01-30.
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