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Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have been linked to ARVC and nine disease genes ha...
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| Format: | Thesis |
| Language: | English |
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Department of Medicine
2014
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| _version_ | 1867613295395995648 |
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| access_status_str | Open Access |
| author | Blanckenberg, Janine |
| author2 | Mayosi, Bongani |
| author_browse | Blanckenberg, Janine Mayosi, Bongani |
| author_facet | Mayosi, Bongani Blanckenberg, Janine |
| author_sort | Blanckenberg, Janine |
| collection | Thesis |
| description | Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have been linked to ARVC and nine disease genes have been identified. Linkage analysis of a South African family was previously performed at ARVC loci 1 to 6. ARVC loci 1 to 5 were excluded as disease loci in this family based on lack of evidence for linkage. However, a peak lod score of 2.93 was obtained for the ARVC-6 locus which is highly suggestive of linkage. Subsequently another locus (ARVC-7) and five ARVC disease genes (ARVC loci 8 to 12) have been reported. The aim of this project was to identify the disease gene that causes ARVC in this family. |
| format | Thesis |
| id | oai:open.uct.ac.za:11427/10130 |
| institution | University of Cape Town (South Africa) |
| language | eng |
| last_indexed | 2026-06-10T12:33:51.607Z |
| license_str | Not specified — see source repository |
| provenance_str_mv | Harvested via OAI-PMH from UCTD — University of Cape Town Open Access Repository |
| publishDate | 2014 |
| publishDateRange | 2014 |
| publishDateSort | 2014 |
| publisher | Department of Medicine |
| publisherStr | Department of Medicine |
| record_format | dspace |
| source_str | UCTD — University of Cape Town Open Access Repository |
| spelling | oai:open.uct.ac.za:11427/10130 Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa Blanckenberg, Janine Mayosi, Bongani Medicine Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heritable disorder characterised by progressive degeneration of the right ventricular myocardium, arrhythmias and an increased risk of sudden death at a young age. Fourteen chromosomal loci have been linked to ARVC and nine disease genes have been identified. Linkage analysis of a South African family was previously performed at ARVC loci 1 to 6. ARVC loci 1 to 5 were excluded as disease loci in this family based on lack of evidence for linkage. However, a peak lod score of 2.93 was obtained for the ARVC-6 locus which is highly suggestive of linkage. Subsequently another locus (ARVC-7) and five ARVC disease genes (ARVC loci 8 to 12) have been reported. The aim of this project was to identify the disease gene that causes ARVC in this family. 2014-12-26T14:17:52Z 2014-12-26T14:17:52Z 2011 Doctoral Thesis Doctoral PhD http://hdl.handle.net/11427/10130 eng application/pdf Department of Medicine Faculty of Health Sciences University of Cape Town |
| spellingShingle | Medicine Blanckenberg, Janine Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa |
| thesis_degree_str | Doctoral |
| title | Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa |
| title_full | Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa |
| title_fullStr | Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa |
| title_full_unstemmed | Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa |
| title_short | Molecular genetics of arrhythmogenic right ventricular cardiomyopathy in South Africa |
| title_sort | molecular genetics of arrhythmogenic right ventricular cardiomyopathy in south africa |
| topic | Medicine |
| url | http://hdl.handle.net/11427/10130 |
| work_keys_str_mv | AT blanckenbergjanine moleculargeneticsofarrhythmogenicrightventricularcardiomyopathyinsouthafrica |