A Novel Myosin Essential Light Chain Mutation Causes Hypertrophic Cardiomyopathy with Late Onset and Low Expressivity

Hypertrophic cardiomyopathy (HCM) is caused by mutations in genes encoding sarcomere proteins. Mutations in MYL3, encoding the essential light chain of myosin, are rare and have been associated with sudden death. Both recessive and dominant patterns of inheritance have been suggested. We studied a l...

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Detalles Bibliográficos
Autores principales: Andersen, Paal Skytt, Hedley, Paula Louise, Page, Stephen P., Syrris, Petros, Moolman-Smook, Johanna Catharina, McKenna, William John, Elliott, Perry Mark, Christiansen, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2012
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3432877/
https://www.ncbi.nlm.nih.gov/pubmed/22957257
http://dx.doi.org/10.1155/2012/685108

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