Variants in
Sanger sequencing
dog
myopathy
non-dystrophic myotonia
whole genome sequencing
Journal
Animals : an open access journal from MDPI
ISSN: 2076-2615
Titre abrégé: Animals (Basel)
Pays: Switzerland
ID NLM: 101635614
Informations de publication
Date de publication:
25 Feb 2024
25 Feb 2024
Historique:
received:
25
12
2023
revised:
15
02
2024
accepted:
24
02
2024
medline:
13
3
2024
pubmed:
13
3
2024
entrez:
13
3
2024
Statut:
epublish
Résumé
(1) Background: Muscle hypertrophy, swallowing disorders, and gait abnormalities are clinical signs common to many muscle diseases, including muscular dystrophies, non-dystrophic myotonias, genetic myopathies associated with deficiency of myostatin, and acquired inflammatory myopathies. Here, we investigated underlying causes of this triad of clinical signs in four young French bulldogs via muscle histopathology coupled with whole genome and Sanger sequencing. (2) Methods: Dogs were evaluated by veterinary clinical internists and neurologists, and biopsies were obtained for histopathological diagnosis. DNA was submitted for whole genome sequencing, followed by bioinformatics evaluation and confirmation of variants via Sanger sequencing in two cases. (3) Results: Two novel variants were identified. The first, found in two related French bulldogs, was a homozygous variant in the chloride channel gene
Identifiants
pubmed: 38473107
pii: ani14050722
doi: 10.3390/ani14050722
pii:
doi:
Types de publication
Journal Article
Langues
eng