| Ovine heritable arthrogryposis multiplex congenita with probable lethal autosomal recessive mutation. | |
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MedLine Citation:
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PMID: 20153865 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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A novel congenital syndrome in lambs is described that is characterized by: (1) kyphoscoliosis (severe curvature, hunching and twisting of the thoracic spine, with associated abnormalities of the ribs and sternum), (2) distal arthrogryposis of the carpal and tarsal joints, and (3) cleft hard and soft palate or palatoschisis (a median fissure of the palate). Male and female lambs are affected equally and in multiple births there may be only one affected lamb. The affected lambs are born full term, but die shortly after birth because they are unable to start breathing. Affected lambs have slightly reduced bodyweight (due to low muscle mass) compared with normal newborn lambs of the same flock. The syndrome is remarkably similar to the recently described bovine heritable arthrogryposis multiplex congenita in the Angus breed. Genetic analysis of the flock by means of DNA microsatellite markers, together with study of the reproductive management of the flock, allowed us to discount an environmental aetiology (e.g. intoxications or infections). In contrast, evidence supports an autosomal recessive inherited disease for which the name ovine heritable arthrogryposis multiplex congenita is proposed. |
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Authors:
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M T Tejedor; L M Ferrer; L V Monteagudo; J J Ramos; D Lacasta; S Climent |
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Publication Detail:
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Type: Journal Article Date: 2010-02-13 |
Journal Detail:
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Title: Journal of comparative pathology Volume: 143 ISSN: 1532-3129 ISO Abbreviation: J. Comp. Pathol. Publication Date: 2010 Jul |
Date Detail:
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Created Date: 2010-06-01 Completed Date: 2010-08-24 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 0102444 Medline TA: J Comp Pathol Country: England |
Other Details:
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Languages: eng Pagination: 14-9 Citation Subset: IM |
Copyright Information:
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(c) 2010 Elsevier Ltd. All rights reserved. |
Affiliation:
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Department of Anatomy, Embryology and Genetics, Faculty of Veterinary Sciences, Universidad de Zaragoza, Miguel Servet 177, 50013 Zaragoza, Spain. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Animals Arthrogryposis / genetics, veterinary* Cleft Palate / genetics, veterinary* Female Kyphosis / congenital, genetics, veterinary* Male Microsatellite Repeats Mutation Pedigree Scoliosis / congenital, genetics, veterinary* Sheep Sheep Diseases / genetics* Syndrome |
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