Gene involved MYBPC
Mutation tested c.91G>C (A31P) (HCM-A)
Transmission mode : Autosomal dominant Age of onset : Between 4 months and 15 years old Remarcks : The disease has a wide variability of expression, with the most severe forms leading to death before the age of one year, and milder forms expressing themselves after 10 years old. For heterozygous or homozygous cats, DNA testing cannot predict the age of onset of the disease or determine the severity of symptoms.
Publication : Meurs et al. (2005). A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.
Gene involved MYBPC
Mutation tested c.2460C>T (R820W) (HCM-C)
Transmission mode : Autosomal dominant Age of onset : Between 4 months and 15 years old Remarcks : The disease has a wide variability of expression, with the most severe forms leading to death before the age of one year, and milder forms expressing themselves after 10 years old. For heterozygous or homozygous cats, DNA testing cannot predict the age of onset of the disease or determine the severity of symptoms.
Publication : Meurs et al. (2007). A substitution mutation in the myosin binding protein C gene in Ragdoll hypertrophic cardiomyopathy.