A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects

BACKGROUND: A Lebanese Maronite family presented with 13 relatives affected by various congenital heart defects (mainly atrial septal defects), conduction tissue anomalies and midline defects. No mutations were found in GATA4 and NKX2-5. METHODS AND RESULTS: A set of 399 poly(AC) markers was used to...

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Detalles Bibliográficos
Autores principales: Augière, Céline, Mégy, Simon, El Malti, Rajae, Boland, Anne, El Zein, Loubna, Verrier, Bernard, Mégarbané, André, Deleuze, Jean-François, Bouvagnet, Patrice
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2015
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464657/
https://www.ncbi.nlm.nih.gov/pubmed/26061005
http://dx.doi.org/10.1371/journal.pone.0127903

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464657/
https://www.ncbi.nlm.nih.gov/pubmed/26061005
http://dx.doi.org/10.1371/journal.pone.0127903

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