En anglais: Hypertrophic Cardiomyopathy (HCM) Ragdolls
Gène affecté: MYBPC3
Transmission: Autosomal Dominant
Mutation: Felis_catus_9.0 D1 g.101329646G>A c.2453C>T
Lien OMIA: 000515-9685
Races appropriées pour les tests : Ragdoll
Références:
Meurs, K.M., Norgard, M.M., Ederer, M.M., Hendrix, K.P., & Kittleson, M.D. (2007). A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy. Genomics, 90(2), 261-264. doi: 10.1016/j.ygeno.2007.04.007O'Donnell, K., Adin, D., Atkins, C.E., DeFrancesco, T., Keene, B.W., Tou, S., Meurs, K.M. :
Absence of known feline MYH7 and MYBPC3 variants in a diverse cohort of cats with hypertrophic cardiomyopathy. Anim Genet 52:542-4, 2021. Pubmed reference: 33970514. DOI: 10.1111/age.13074.