Recurrent and founder mutations in the Netherlands: the cardiac phenotype of DES founder mutations p.S13F and p.N342D

BACKGROUND: Desmin-related myopathy (DRM) is an autosomally inherited skeletal and cardiac myopathy, mainly caused by dominant mutations in the desmin gene (DES). We describe new families carrying the p.S13F or p.N342D DES mutations, the cardiac phenotype of all carriers, and the founder effects. ME...

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Detalles Bibliográficos
Autores principales: van Spaendonck-Zwarts, K. Y., van der Kooi, A. J., van den Berg, M. P., Ippel, E. F., Boven, L. G., Yee, W.-C., van den Wijngaard, A., Brusse, E., Hoogendijk, J. E., Doevendans, P. A., de Visser, M., Jongbloed, J. D. H., van Tintelen, J. P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bohn Stafleu van Loghum 2012
Materias:
Special Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3346870/
https://www.ncbi.nlm.nih.gov/pubmed/22215463
http://dx.doi.org/10.1007/s12471-011-0233-y

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