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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Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Bohn Stafleu van Loghum 2012
Matèries:
Special Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3346870/
https://ncbi.nlm.nih.gov/pubmed/22215463
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12471-011-0233-y
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