A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42–q43
Autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVD, MIM 107970) is one of the major causes of juvenile sudden death. We have previously assigned the disease locus to chromosome 14q23–q24. Here we report on a novel variant of ARVD, which is transmitted associated to 1q42–q43 and...
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| Veröffentlicht in: | Human molecular genetics 1995-11, Vol.4 (11), p.2151-2154 |
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| container_issue | 11 |
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| container_title | Human molecular genetics |
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| creator | Rampazzo, Alessandra Nava, Andrea Erne, Paul Eberhard, Marc Vian, Elisa Slomp, Paola Tiso, Natascia Thiene, Gastano Danieli, Gian Antonio |
| description | Autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVD, MIM 107970) is one of the major causes of juvenile sudden death. We have previously assigned the disease locus to chromosome 14q23–q24. Here we report on a novel variant of ARVD, which is transmitted associated to 1q42–q43 and is characterized by a concealed form, showing effort-induced polymorphic tachycardias. Since both loci ARVD1 and ARVD2 map in proximity of a-actinin genes, the possible implication of these myofibrillar proteins in the pathogenesis of ARVD is discussed. Two additional ARVD families, tested with markers of chromosomes 1q42–q43 and 14q23–q24, failed to show linkage, providing evidence of further genetic heterogeneity. |
| doi_str_mv | 10.1093/hmg/4.11.2151 |
| format | Article |
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Vascular system</subject><subject>Cardiomyopathies - genetics</subject><subject>Chromosome Mapping</subject><subject>Chromosomes, Human, Pair 1</subject><subject>Female</subject><subject>Heart</subject><subject>Humans</subject><subject>Male</subject><subject>Medical sciences</subject><subject>Myocarditis. 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| source | MEDLINE; Oxford University Press Journals Digital Archive Legacy |
| subjects | Actinin - genetics Arrhythmias, Cardiac - genetics Biological and medical sciences Cardiology. Vascular system Cardiomyopathies - genetics Chromosome Mapping Chromosomes, Human, Pair 1 Female Heart Humans Male Medical sciences Myocarditis. Cardiomyopathies Pedigree Ventricular Dysfunction, Right - genetics |
| title | A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42–q43 |
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