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Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study

In a five-generation family carrying a novel frameshift LMNA variant (c.1434dupG, p.Leu479AlafsX72), imaging-augmented segregation analysis supports its association with lamin heart disease. Affected members exhibit conduction abnormalities, supraventricular and ventricular arrythmias, dilated cardi...

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Detalles Bibliográficos
Autores principales:	ALFARIH, MASHAEL, SYRRIS, PETROS, ARBUSTINI, ELOISA, AUGUSTO, JOÃO B., HUGHES, ALUN, LLOYD, GUY, LOPES, LUIS R., MOON, JAMES C., MOHIDDIN, SAIDI, CAPTUR, GABRIELLA
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Pacini Editore srl 2019
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6859410/ https://www.ncbi.nlm.nih.gov/pubmed/31788659

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