Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report-Reference-Cited by-同舟云学术

Description of a novel RyR2 mutation in a juvenile patient with symptomatic catecholaminergic polymorphic ventricular tachycardia in sleep and during exercise: a case report

Published:2018-10-09 Issue:1 Volume:12 Page:
ISSN:1752-1947
Container-title:Journal of Medical Case Reports
language:en
Short-container-title:J Med Case Reports

Author:

Seidlmayer L. K.,Riediger F.,Pagonas N.,Nordbeck P.,Ritter O.,Sasko B.

Publisher

Springer Science and Business Media LLC

Subject

General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13256-018-1825-6.pdf

Reference12 articles.

1. Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R, et al. Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation. 2001;103:196–200.

2. Erman B. Relationships between ligand binding sites, protein architecture and correlated paths of energy and conformational fluctuations. Phys Biol. 2011;8:56003. https://doi.org/10.1088/1478-3975/8/5/056003

3. Landstrom AP, Dobrev D, Wehrens XHT. Calcium signaling and cardiac arrhythmias. Circ Res. 2017;120:1969–93. https://doi.org/10.1161/CIRCRESAHA.117.310083

4. Priori SG, Blomström-Lundqvist C, Mazzanti A, Blom N, Borggrefe M, Camm J, et al. 2015 ESC guidelines for the management of patients with ventricular arrhythmias and the prevention of sudden cardiac death. Rev Esp Cardiol (Engl Ed). 2016;69:176. https://doi.org/10.1016/j.rec.2016.01.001

5. Suna B, Guob W, Tian X, Yao J, Zhang L, Wang R, Chen SRW. The cytoplasmic region of inner helix S6 is an important determinant of cardiac ryanodine receptor channel gating. J Biol Chem. 2016;291(50):26024–34.

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