Clinical Phenotype of Musladin-Lueke Syndrome in 2 Beagles.
J Vet Intern Med
; 31(2): 532-538, 2017 Mar.
Article
en 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.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Base de datos:
MEDLINE
Asunto principal:
Anomalías Cutáneas
/
Enfermedades de los Perros
/
Artropatías
Tipo de estudio:
Prognostic_studies
Límite:
Animals
/
Female
/
Humans
/
Male
Idioma:
En
Revista:
J Vet Intern Med
Asunto de la revista:
MEDICINA INTERNA
/
MEDICINA VETERINARIA
Año:
2017
Tipo del documento:
Article
País de afiliación:
India