A gene defect that causes conduction system disease and dilated cardiomyopathy maps to chromosome 1p1–1q1 View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

1994-08

AUTHORS

Susan Kass, Calum MacRae, Harry L. Graber, Elizabeth A. Sparks, Dennis McNamara, Harisios Boudoulas, Craig T. Basson, Peter B. Baker, Robert J. Cody, Mark C. Fishman, Nancy Cox, Augustine Kong, Charles F. Wooley, J.G. Seidman, Christine E. Seidman

ABSTRACT

Longitudinal evaluation of a seven generation kindred with an inherited conduction system defect and dilated cardiomyopathy demonstrated autosomal dominant transmission of a progressive disorder that both perturbs atrioventricular conduction and depresses cardiac contractility. To elucidate the molecular genetic basis for this disorder, a genome–wide linkage analysis was performed. Polymorphic loci near the centromere of chromosome 1 demonstrated linkage to the disease locus (maximum multipoint lod score = 13.2 in the interval between D1S305 and D1S176). Based on the disease phenotype and map location we speculate that gap junction protein connexin 40 is a candidate for mutations that result in conduction system disease and dilated cardiomyopathy. More... »

PAGES

546-551

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/ng0894-546

DOI

http://dx.doi.org/10.1038/ng0894-546

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1038027029

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/7951328


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