Copyright © 2006, European Society of Cardiology
Cardiomyopathies and sudden cardiac death caused by RyR2 mutations: Are the channels the beginning and the end?
Department of Physiology, University of Debrecen, H-4012 Debrecen, P.O.Box 22, Hungary
* Corresponding author. Tel.: +36 52 416634; fax: +36 52 432289. Email address: nanasi@phys.dote.hu
Received 1 June 2006; accepted 6 June 2006
| The first 10% of the full text of this article appears below. |
See article by Milting et al. [3] (pages 496–505) in this issue.
A basic goal of medicine is to cure diseases. Acquired diseases may sometimes be prevented by various methods of exercising, by the "healthy way" of living. Inherited diseases are different; their effective treatment (provided that there is any) requires the recognition of the disease in a sufficiently early stage of life. One – and probably the most promising – way to do so is to establish the link between disorders and genetic alterations. This can be achieved by mapping the mutations corresponding to a given disease, and in the past decade a large number of mutations affecting molecules involved in calcium handling of skeletal and cardiac muscles, including the ryanodine receptor, have been identified [1]