Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.

  title={Refined exercise testing can aid DNA-based diagnosis in muscle channelopathies.},
  author={Stella Veronica Tan and Emma Matthews and Melissa G Barber and James A Burge and Sanjeev Rajakulendran and Doreen Fialho and Richa Sud and Andrea Haworth and Martin Koltzenburg and Michael G. Hanna},
  journal={Annals of neurology},
  volume={69 2},
OBJECTIVE To improve the accuracy of genotype prediction and guide genetic testing in patients with muscle channelopathies we applied and refined specialized electrophysiological exercise test parameters. METHODS We studied 56 genetically confirmed patients and 65 controls using needle electromyography, the long exercise test, and short exercise tests at room temperature, after cooling, and rewarming. RESULTS Concordant amplitude-and-area decrements were more reliable than amplitude-only… CONTINUE READING


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