Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene

Autor: Bergman, Jorieke E.H., Veenstra-Knol, Hermine E., van Essen, Anthonie J., van Ravenswaaij, Conny M.A., den Dunnen, Wilfred F.A., van den Wijngaard, Arthur, Peter van Tintelen, J.
Zdroj: In European Journal of Medical Genetics 2007 50(5):355-366
Databáze: ScienceDirect