Novel desmoplakin mutation: juvenile biventricular cardiomyopathy with left ventricular non-compaction and acantholytic palmoplantar keratoderma

Two sons of a consanguineous marriage developed biventricular cardiomyopathy. One boy died of severe heart failure at the age of 6 years, the other was transplanted because of severe heart failure at the age of 10 years. In addition, focal palmoplantar keratoderma and woolly hair were apparent in bo...

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Detalles Bibliográficos
Autores principales: Williams, Tatjana, Machann, Wolfram, Kühler, Leif, Hamm, Henning, Müller-Höcker, Josef, Zimmer, Michael, Ertl, Georg, Ritter, Oliver, Beer, Meinrad, Schönberger, Jost
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer-Verlag 2011
Materias:
Original Paper
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222824/
https://www.ncbi.nlm.nih.gov/pubmed/21789513
http://dx.doi.org/10.1007/s00392-011-0345-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3222824/
https://www.ncbi.nlm.nih.gov/pubmed/21789513
http://dx.doi.org/10.1007/s00392-011-0345-9

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