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Restrictive cardiomyopathy: an unusual phenotype of a lamin A variant

Most individuals with cardiomyopathy associated with variants of the LMNA (lamin A) gene present with cardiac conduction abnormalities followed by dilated cardiomyopathy and cardiac failure; some also have skeletal muscle weakness. In this report, an individual with restrictive cardiomyopathy presen...

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Detalles Bibliográficos
Autores principales: Paller, Mark S., Martin, Cindy M., Pierpont, Mary Ella
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6073024/
https://www.ncbi.nlm.nih.gov/pubmed/29741282
http://dx.doi.org/10.1002/ehf2.12294