OMIA 001464-9615 : Pseudomyotonia, congenital in Canis lupus familiaris

In other species: cattle

Possibly relevant human trait(s) and/or gene(s) (MIM number): 601003

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


2019 Stee, K., Van Poucke, M., Peelman, L., Lowrie, M. :
Paradoxical pseudomyotonia in English Springer and Cocker Spaniels. J Vet Intern Med :, 2019. 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