Sökning: "MYBPC3"

Hittade 3 uppsatser innehållade ordet MYBPC3.

  1. 1. Genetic characterization of a Ragdoll family affected by hypertrophic cardiomyopathy

    Master-uppsats, SLU/Dept. of Clinical Sciences

    Författare :Emma Nääs; [2023]
    Nyckelord :Hypertrophic cardiomyopathy; Ragdoll; Genetics; Myosin binding protein C3; Myosin heavy chain 7; Cardiac troponin T; Alstrom syndrome protein 1;

    Sammanfattning : Hypertrophic cardiomyopathy (HCM) is a common cardiac disease among felines, resulting in myocardial hypertrophy and subsequent decreased cardiac function. Consequently, cats may develop congestive heart failure and/or arterial thromboembolism. The disease is inherited and various mutations in sarcomeric genes have been associated with feline HCM. LÄS MER

  3. 2. Hypertrofisk kardiomyopati hos en familj brittiska korthårskatter

    L3-uppsats, SLU/Dept. of Clinical Sciences

    Författare :Victoria Welander; [2008]
    Nyckelord :HCM; hypertrofisk kardiomyopati;

    Sammanfattning : The objectives of this study was to examine the prevalence of hypertrophic cardiomyopathy in a family of British Shorthaircats to determine the mode of inheritance and to investigate if the disease was associated with a mutation in myosin binding proteinC (MyBPC3). The family comprised 28 cats, seven male and 21 females. LÄS MER

  4. 3. Förekomst av MyBP-C mutationer hos katter med hypertrofisk kardiomyopati

    L3-uppsats, SLU/Dept. of Clinical Sciences

    Författare :Sofie Ödling; [2007]
    Nyckelord :katt; hypertrofisk kardiomyopati; HCM; mutation; A31P; A74T; maine coon; ragdoll; ärftlig; autosomal dominant; MYBPC3; MyBP-C; modifierande faktorer; allel; diagnostik; ekokardiografi; genetik; avel; screening; sarkomer; hypertrofi;

    Sammanfattning : Hypertrophic cardiomyopathy (HCM) is the most commonly diagnosed cardiac disease in cats. The phenotype varies from mild focal thickening to severe concentric hypertrophy at the left ventricle. Two separate myosin binding protein C (MYBPC3) mutations have been identified in Maine coon cats (A31P and A74T) and one in Ragdoll cats. LÄS MER