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. 2019 Nov 26;9:17560. doi: 10.1038/s41598-019-54041-0

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© The Author(s) 2019

Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.

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(a) Muscle velocity recovery cycles (MVRC) to one and five conditioning stimuli. Normal controls (green, mean ± SE, n = 26), R222Q (red). The muscle relative refractory period (MRRP), early supernormality (ESN), and late supernormality (LSN), 5ESN, residual supernormality (RSN) and extra residual supernormality after 5 conditioning stimuli (5XRSN) are as defined in the text. (b) Superimposed MVRCs of Sodium channel myotonia (blue, n = 9), Paramyotonia congenita (cyan, n = 8), Myotonia congenita (black, n = 11), and R222Q patient (red). Data is mean ± SE. (c) Ramp. Normal controls (green, n = 26, mean ± SE), R222Q (red). d. Ramp. Groups superimposed. For clarity, only means are shown. Sodium channel myotonia (blue, n = 9, mean), Paramyotonia congenita (cyan, n = 8, mean, * marks where the latency could no longer be measured because of the loss of amplitude), Myotonia congenita (black, n = 11, mean), R222Q patient (red). (e,f) Plots of excitability measurements taken from the MVRC, ramp, and repetitive stimulation data, showing R222Q (red) as an outlier to the SCM (blue) and PMC (cyan) groups, and either lying with the MC (black) group (e–g) or as an outlier for all 3 groups. (h) 5XMSN: extra mean supernormality with 5 conditioning stimuli; XMSN: extra mean supernormality after 2 conditioning stimuli; MSuperN(20 Hz Recov): early supernormality following 6 minutes of intermittent 20 Hz stimulation during the repetitive stimulation protocol; MPkf(20 Hz C4 + 5): amplitude of the first in 20 Hz train for MVRC cycles 4 and 5 during the repetitive stimulation; MPk 30 Hz: amplitude for the last in the 30 Hz train during the ramp (for more details, please see Tan et al., 2014, and 2018).