Familial restrictive cardiomyopathy due to MYBPC3 gene mutation (Q106235): Difference between revisions

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Latest revision as of 13:03, 17 August 2026

Familial restrictive cardiomyopathy due to MYBPC3 (Myosin Binding Protein C3) gene mutation is a type of sarcomeric restrictive cardiomyopathy and is the presence of restrictive cardiomyopathy in the presence of a MYBPC3 gene mutation that is known to be significantly associated with restrictive physiology. Additional information. This disruption in the binding of domains within the contractile apparatus of the myocyte is believed to increase calcium sensitivity of contraction and to impair relaxation.

Language	Label	Description	Also known as
default for all languages	ID_1736584890
English	Familial restrictive cardiomyopathy due to MYBPC3 gene mutation	Familial restrictive cardiomyopathy due to MYBPC3 (Myosin Binding Protein C3) gene mutation is a type of sarcomeric restrictive cardiomyopathy and is the presence of restrictive cardiomyopathy in the presence of a MYBPC3 gene mutation that is known to be significantly associated with restrictive physiology. Additional information. This disruption in the binding of domains within the contractile apparatus of the myocyte is believed to increase calcium sensitivity of contraction and to impair relaxation.