Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy

BACKGROUND: About 2-7% of familial cardiomyopathy cases are caused by a mutation in the gene encoding cardiac troponin I (TNNI3). The related clinical phenotype is usually severe with early onset. Here we report on all currently known mutations in the Dutch population and compared these with those d...

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Bibliografski detalji
Glavni autori: van den Wijngaard, A., Volders, P., Van Tintelen, J. P., Jongbloed, J. D. H., van den Berg, M. P., Lekanne Deprez, R. H., Mannens, M. M. A. M., Hofmann, N., Slegtenhorst, M., Dooijes, D., Michels, M., Arens, Y., Jongbloed, R., Smeets, B. J. M.
Format: Artigo
Jezik:Inglês
Izdano: Bohn Stafleu van Loghum 2011
Teme:
Special Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3144325/
https://ncbi.nlm.nih.gov/pubmed/21533915
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12471-011-0135-z
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