Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease

Fatkin, Diane, MacRae, Calum, Sasaki, Takeshi, Wolff, Matthew R., Porcu, Maurizio, Frenneaux, Michael, Atherton, John, Vidaillet, Humberto J., Spudich, Serena, De Girolami, Umberto, Seidman, J. G., Muntoni, Francesco, Müehle, Gerry, Johnson, Wendy, McDonough, Barbara and Seidman, Christine E. (1999) Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease. New England Journal of Medicine, 341 (23). pp. 1715-24. ISSN 0028-4793

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Abstract

Inherited mutations cause approximately 35 percent of cases of dilated cardiomyopathy; however, few genes associated with this disease have been identified. Previously, we located a gene defect that was responsible for autosomal dominant dilated cardiomyopathy and conduction-system disease on chromosome 1p1-q21, where nuclear-envelope proteins lamin A and lamin C are encoded by the LMNA (lamin A/C) gene. Mutations in the head or tail domain of this gene cause Emery-Dreifuss muscular dystrophy, a childhood-onset disease characterized by joint contractures and in some cases by abnormalities of cardiac conduction during adulthood.

Item Type: Article
Uncontrolled Keywords: adolescent,adult,amino acid sequence,arrhythmias, cardiac,cardiomyopathy, dilated,chromosome mapping,chromosomes, human, pair 1,female,genes, dominant,genotype,humans,lamin type a,lamins,male,middle aged,molecular sequence data,muscular dystrophy, emery-dreifuss,mutation, missense,nuclear proteins,pedigree,protein isoforms,sequence analysis, dna
Faculty \ School: Faculty of Medicine and Health Sciences > Norwich Medical School
Depositing User: Pure Connector
Date Deposited: 09 Mar 2015 07:28
Last Modified: 21 Apr 2020 23:53
URI: https://ueaeprints.uea.ac.uk/id/eprint/52395
DOI: 10.1056/NEJM199912023412302

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