Congenital muscular dystrophy in a dog with a LAMA2 gene deletion.
J Vet Intern Med
; 36(1): 279-284, 2022 Jan.
Article
em En
| MEDLINE
| ID: mdl-34854126
ABSTRACT
A 2-year-old female spayed dog was presented with a chronic history of short-strided gait and inability to completely open the jaw. Clinical signs were present since the dog was adopted from a humane society at a few months of age. Serum creatine kinase activity was abnormally high. Neurological examination, electromyography, muscle biopsies with immunofluorescent staining, and whole genome sequencing (WGS) were performed. A dystrophic phenotype was identified histologically in muscle biopsies, deficiency of laminin α2 protein was confirmed by immunofluorescent staining, and a deletion in the LAMA2 gene was identified by analysis of the WGS data. Congenital muscular dystrophy associated with a disease variant in LAMA2 was identified.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Doenças do Cão
/
Distrofias Musculares
Tipo de estudo:
Diagnostic_studies
/
Prognostic_studies
Limite:
Animals
Idioma:
En
Revista:
J Vet Intern Med
Assunto da revista:
MEDICINA INTERNA
/
MEDICINA VETERINARIA
Ano de publicação:
2022
Tipo de documento:
Article
País de afiliação:
Estados Unidos