Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.
J Vet Intern Med
; 31(2): 532-538, 2017 Mar.
Article
em En
| MEDLINE
| ID: mdl-28158899
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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Anormalidades da Pele
/
Doenças do Cão
/
Artropatias
Tipo de estudo:
Prognostic_studies
Limite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Vet Intern Med
Assunto da revista:
MEDICINA INTERNA
/
MEDICINA VETERINARIA
Ano de publicação:
2017
Tipo de documento:
Article
País de afiliação:
Índia