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Missense mutations in the rod domain of the lamin A/C gene as causes of dilated cardiomyopathy and conduction-system disease.
D Fatkin, C MacRae, T Sasaki, M R Wolff, M Porcu, M Frenneaux, J Atherton, H J Vidaillet, S Spudich, U De Girolami, J G Seidman, C Seidman, F Muntoni, G Müehle, W Johnson, B McDonough,
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.
The New England journal of medicine - Dec 1999