Article
Clinical presentation of calmodulin mutations: the International Calmodulinopathy Registry.
European heart journal - 14 Sept 2023
Crotti Lia, Spazzolini Carla, Nyegaard Mette, Overgaard Michael T, Kotta Maria-Christina, Dagradi Federica, Sala Luca, Aiba Takeshi, Ayers Mark D, Baban Anwar, Barc Julien, Beach Cheyenne M, Behr Elijah R, Bos J Martijn, Cerrone Marina, Covi Peter, Cuneo Bettina, Denjoy Isabelle, Donner Birgit, Elbert Adrienne, Eliasson Håkan, Etheridge Susan P, Fukuyama Megumi, Girolami Francesca, Hamilton Robert, Horie Minoru, Iascone Maria, Jiménez-Jaimez Juan, Jensen Henrik Kjærulf, Kannankeril Prince J, Kaski Juan P, Makita Naomasa, Muñoz-Esparza Carmen, Odland Hans H, Ohno Seiko, Papagiannis John, Porretta Alessandra Pia, Prandstetter Christopher, Probst Vincent, Robyns Tomas, Rosenthal Eric, Rosés-Noguer Ferran, Sekarski Nicole, Singh Anoop, Spentzou Georgia, Stute Fridrike, Tfelt-Hansen Jacob, Till Jan, Tobert Kathryn E, Vinocur Jeffrey M, Webster Gregory, Wilde Arthur A M, Wolf Cordula M, Ackerman Michael J, Schwartz Peter J
Abstract excerpt
AIMS: Calmodulinopathy due to mutations in any of the three CALM genes (CALM1-3) causes life-threatening arrhythmia syndromes, especially in young individuals. The International Calmodulinopathy Registry (ICalmR) aims to define and link the increasing complexity of the clinical presentation to the underlying molecular mechanisms. METHODS AND RESULTS: The ICalmR is an international, collaborative, observational...
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