Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes

Complex phenotype linked to a mutation in exon 11 of the lamin A/C gene: Hypertrophic cardiomyopathy, atrioventricular block, severe dyslipidemia and diabetes

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The lamin A/C (LMNA) gene encodes lamins A and C, which have an important role in nuclear cohesion and chromatin organization. Mutations in this gene usually lead to the so-called laminopathies, the primary cardiac manifestations of which are dilated cardiomyopathy and intracardiac conduction defect...

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Bibliographic Details
Main Authors: Ana Rita G. Francisco, Inês Santos Gonçalves, Fátima Veiga, Mónica Mendes Pedro, Fausto J. Pinto, Dulce Brito
Format: Article
Language:English
Published: Elsevier 2017-09-01
Series:Revista Portuguesa de Cardiologia
Online Access:http://www.sciencedirect.com/science/article/pii/S0870255117305590

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http://www.sciencedirect.com/science/article/pii/S0870255117305590

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