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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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Detalhes bibliográficos
Main Authors: Andersen, Paal Skytt, Hedley, Paula Louise, Page, Stephen P., Syrris, Petros, Moolman-Smook, Johanna Catharina, McKenna, William John, Elliott, Perry Mark, Christiansen, Michael
Formato: Artigo
Idioma:Inglês
Publicado em: Hindawi Publishing Corporation 2012
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3432877/
https://ncbi.nlm.nih.gov/pubmed/22957257
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1155/2012/685108
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