Novel ryanodine receptor 2 mutation associated with a severe phenotype of catecholaminergic polymorphic ventricular tachycardia |
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| Authors: | LaPage Martin J Russell Mark W Bradley David J Dick Macdonald |
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| Affiliation: | Division of Pediatric Cardiology, Department of Pediatrics and Communicable Diseases, University of Michigan, Ann Arbor, MI 48109, USA. mlapage@med.umich.edu |
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| Abstract: | ![]()
An adolescent girl with a history of anxiety associated seizure-like episodes was ultimately diagnosed with catecholaminergic polymorphic ventricular tachycardia. She tested positive for a novel mutation of the ryanodine receptor. The report underscores how genetic arrhythmia syndromes may be mistaken for neurologic disorders. |
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