Musladin-Lueke syndrome

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Musladin-Lueke syndrome (previously known as Chinese Beagle syndrome) is a hereditary disorder that affects beagles 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 of recessive mutations affecting fibrillin-1, a major component of microfibrils.[1] It affects several organ systems, including the skeleton, heart, skin, and muscle. According to the American 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 stiff gait. Seizures have also been noted in affected dogs.[2]

References[edit]

  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. Retrieved 2021-01-30.