Their mean log2-fold change levels in patients with AD-RYR1-related CCD were −1.58 (adjusted P = 0.081) and −2.56 (adjusted P = 0.0025; Fig. 1E), in patients with AR RYR1-related MmD/CNM, they were reduced to −1.03 (adjusted P = 0.063) and −1.34 (adjusted P = 0.052; Fig. 1F), and in AD nemaline myopathy patients, they were −1.85 (adjusted P = 8.74E − 05) and −0.98 adjusted (P = 0.076; Fig. 1G). Here, RYR1 is linked to nemaline myopathy.