May 11, 2004Clinical ChemistryOpen Access

Denaturing HPLC-Based Approach for Detecting RYR2 Mutations Involved in Malignant Arrhythmias

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Population

22 unrelated patients with effort-induced polymorphic ventricular arrhythmias but lacking a precise diagnosis

Design

Case_series

Authors

Discussion

Extends RYR2 mutation spectrum in effort-induced arrhythmias; leaves open DHPLC screening utility without larger validation.

Population

22 unrelated patients with effort-induced polymorphic ventricular arrhythmias but lacking a precise diagnosis

Intervention

Denaturing HPLC (DHPLC) analysis of critical exons of the RYR2 gene

Outcome

Identification of mutations in the human RYR2 genesurrogate

DHPLC is a cost-effective and sensitive method for screening RYR2 mutations in patients with effort-induced polymorphic ventricular arrhythmias.

Bagattin et al. (2004) studied this question.

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