https://scholars.lib.ntu.edu.tw/handle/123456789/536701
標題: | A novel mutation (Arg169Gln) of the cardiac ryanodine receptor gene causing exercise-induced bidirectional ventricular tachycardia | 作者: | Hsueh C.-H. Weng Y.-C. Chen C.-Y. Lin T.-K. Lin Y.-H. LING-PING LAI JIUNN-LEE LIN |
關鍵字: | Cardiac ryanodine receptor; Catecholaminergic polymorphic ventricular tachycardia; Sudden cardiac death | 公開日期: | 2006 | 卷: | 108 | 期: | 2 | 起(迄)頁: | 276-278 | 來源出版物: | International Journal of Cardiology | 摘要: | An 18-year-old woman presented with exercise induced sudden collapse. Series of cardiac work up revealed no structural cardiac abnormalities. Bidirectional ventricular tachycardia occurred during a treadmill exercise test. Under the impression of catecholaminergic polymorphic ventricular tachycardia, we screened the cardiac ryanodine receptor gene for mutation. We identified a novel heterozygous mutation at the 169th amino acid (Arg169Gln). This amino acid is highly conserved among many species and this mutation was not present in 50 normal control subjects. This patient was treated with a β-block with good response. ? 2005 Elsevier Ireland Ltd. All rights reserved. |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-33644698799&doi=10.1016%2fj.ijcard.2005.02.051&partnerID=40&md5=664781d9e8d5e99ad3390fbd95f56f36 https://scholars.lib.ntu.edu.tw/handle/123456789/536701 |
ISSN: | 0167-5273 | DOI: | 10.1016/j.ijcard.2005.02.051 | SDG/關鍵字: | beta adrenergic receptor blocking agent; ryanodine receptor; adult; amino acid sequence; article; case report; collapse; controlled study; exercise; exercise test; female; gene identification; gene mutation; genetic heterogeneity; heart disease; heart ventricle tachycardia; human; priority journal; sudden death; treadmill exercise; Adolescent; Arginine; Exercise; Female; Glutamine; Humans; Mutation, Missense; Ryanodine Receptor Calcium Release Channel; Tachycardia, Ventricular |
顯示於: | 醫學系 |
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