OMIA 001464-9615 : Pseudomyotonia, congenital in Canis lupus familiaris |
In other species:
cattle
Possibly relevant human trait(s) and/or gene(s)s (MIM numbers):
601003 (trait)
,
108730 (gene)
Mendelian trait/disorder:
unknown
Considered a defect:
yes
History:
Stee et al. (2019) were the first to report this disorder in dogs.
Molecular basis:
Stee et al. (2019) reported that "The underlying genetic cause is not identified yet, because no disease-causing variants could be found in the coding sequence or splice sites of the 2 major candidate genes, SCN4A and ATP2A1".
Breeds:
English Cocker Spaniel,
English Springer Spaniel.
Reference
2020 | Stee, K., Van Poucke, M., Peelman, L., Lowrie, M. : | |
Paradoxical pseudomyotonia in English Springer and Cocker Spaniels. J Vet Intern Med 34:253-7, 2020. Pubmed reference: 31729100. DOI: 10.1111/jvim.15660. |
Edit History
- Created by Frank Nicholas on 19 Nov 2019
- Changed by Frank Nicholas on 19 Nov 2019