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Mutation Analysis of the Candidate Genes SCNIB-4B, FHL1, and LMNA in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy From Refsgaard, et al. (2012) roduction: hythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined rt disease characterized by fibrofatty infiltrations in the myocardium, right and/or left tricular involvement, and ventricular tachyarrhythmias. Although ten genes have m associated with ARVC, only about 40% of the patients have an identifiable disease-

Mutation Analysis of the Candidate Genes SCNIB-4B, FHL1, and LMNA in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy From Refsgaard, et al. (2012) roduction: hythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined rt disease characterized by fibrofatty infiltrations in the myocardium, right and/or left tricular involvement, and ventricular tachyarrhythmias. Although ten genes have m associated with ARVC, only about 40% of the patients have an identifiable disease-

Human Anatomy & Physiology (11th Edition)
Human Anatomy & Physiology (11th Edition)
11th Edition
ISBN:9780134580999
Author:Elaine N. Marieb, Katja N. Hoehn
Publisher:Elaine N. Marieb, Katja N. Hoehn
Chapter1: The Human Body: An Orientation
Section: Chapter Questions
Problem 1RQ: The correct sequence of levels forming the structural hierarchy is A. (a) organ, organ system,...
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Analyze the text and answer the following. •Title of the text: •Kind of Text: •Important Terminologies used in the text: •Observations about the language used in the text: •Observation about the text structure: •Main Topic of the Text: Supporting details and information: •Summary of the text:
Mutation Analysis of the Candidate Genes SCNIB-4B, FHL1, and LMNA in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy From Refsgaard, et al. (2012) Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart disease characterized by fibrofatty infiltrations in the myocardium, right and/or left ventricular involvement, and ventricular tachyarrhythmias. Although ten genes have been associated with ARVC, only about 40% of the patients have an identifiable disease- causing mutation. In the present study we aimed at investigating the involvement of the genes SCNIB-SCN4B, FHL1, and LMNA in the pathogenesis of ARVC. Methods: Sixty-five unrelated patients (55 fulfilling ARVC criteria and 10 borderline cases) were screened for variants in SCNIB-4B, FHL1, and LMNA by direct sequencing and Light Scanner melting curve analysis. Results: A total of 28 sequence variants were identified: seven in SCN1B,three in SCN2B, two in SCN3B, two in SCN4B, four in FHL1, and ten in LMNA. Three of the variants were novel. One of the variants was non-synonymous. No disease-causing mutations were identified. Conclusions: In our limited sized cohort the six studied candidate genes were not associate with ARVC.
Transcribed Image Text:Mutation Analysis of the Candidate Genes SCNIB-4B, FHL1, and LMNA in Patients with Arrhythmogenic Right Ventricular Cardiomyopathy From Refsgaard, et al. (2012) Introduction: Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a genetically determined heart disease characterized by fibrofatty infiltrations in the myocardium, right and/or left ventricular involvement, and ventricular tachyarrhythmias. Although ten genes have been associated with ARVC, only about 40% of the patients have an identifiable disease- causing mutation. In the present study we aimed at investigating the involvement of the genes SCNIB-SCN4B, FHL1, and LMNA in the pathogenesis of ARVC. Methods: Sixty-five unrelated patients (55 fulfilling ARVC criteria and 10 borderline cases) were screened for variants in SCNIB-4B, FHL1, and LMNA by direct sequencing and Light Scanner melting curve analysis. Results: A total of 28 sequence variants were identified: seven in SCN1B,three in SCN2B, two in SCN3B, two in SCN4B, four in FHL1, and ten in LMNA. Three of the variants were novel. One of the variants was non-synonymous. No disease-causing mutations were identified. Conclusions: In our limited sized cohort the six studied candidate genes were not associate with ARVC.
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