En anglais:  Hypertrophic Cardiomyopathy (HCM) Maine Coon
Gène affecté: MYBPC3
Transmission: Autosomal Dominant
Mutation: Felis_catus_9.0 D1 g.101340772C>G c.91G>C
Lien OMIA:  000515-9685
 
Races appropriées pour les tests : Maine Coon
 
Références:
Meurs, KM., Sanchez, X., David, RM., Bowles, NE., Towbin, JA., Reiser, PJ., Kittleson, JA., Munro, MJ., Dryburgh, K., Macdonald, KA., Kittleson, MD. :    A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy. Hum Mol Genet 14:3587-93, 2005. Pubmed reference: 16236761. DOI: 10.1093/hmg/ddi386.
O'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.