Current Classification of Canine Muscular Dystrophies and Identification of New Variants.
Genes (Basel)
; 14(8)2023 07 29.
Article
em En
| MEDLINE
| ID: mdl-37628610
ABSTRACT
The spectrum of canine muscular dystrophies has rapidly grown with the recent identification of several more affected breeds and associated mutations. Defects include those in genes and protein products associated with the sarcolemma (dystrophin deficient X-linked muscular dystrophy and sarcoglycan-deficient limb-girdle muscular dystrophy) and with the extracellular matrix (collagen 6, laminin α2, and α-dystroglycan-deficient congenital muscular dystrophies). With the increasing application of whole genome sequencing and whole exome sequencing, the clinical and pathological spectra associated with specific neuromuscular genetic defects are constantly evolving. In this report, we provide a brief overview of the current status of gene defects reported in canine muscular dystrophies. We also report the causative mutations for novel forms of X-linked muscular dystrophy in Brittany spaniels and in a French bulldog.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Distrofia Muscular de Duchenne
/
Distrofia Muscular do Cíngulo dos Membros
Tipo de estudo:
Diagnostic_studies
Limite:
Animals
Idioma:
En
Revista:
Genes (Basel)
Ano de publicação:
2023
Tipo de documento:
Article
País de afiliação:
Estados Unidos