Familial restrictive cardiomyopathy due to MYBPC3 gene mutation (Q106235): Difference between revisions
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Cardiomiopatia restritiva familiar devido à mutação do gene MYBPC3 (Myosin Binding Protein C3) é um tipo de cardiomiopatia restritiva sarcomérica e é a presença de cardiomiopatia restritiva na presença de uma mutação do gene MYBPC3 que é conhecida por estar significativamente associada à fisiologia restritiva._x000D_ _x000D_ Informações adicionais. Acredita-se que essa interrupção na ligação dos domínios dentro do aparelho contrátil do miócito aumenta a sensibilidade ao cálcio da contração e prejudica o relaxamento. | |||
| description / en | description / en | ||
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. | |||
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 |
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| default for all languages | ID_1736584890 |
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| 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. |
