Interestingly, muscles from patients with AD KBTBD13-related nemaline myopathy who also have a loss of fast twitch fibres, showed reduced expression levels of all MYH1, MYH2 and TNNT3 (the mean log2-fold changes were −8.17 adjusted P = 2.78E − 13, −3.44 adjusted P = 1.55E − 04 and −3.48 adjusted P = 1.55E − 05, respectively) and increased expression of TNNT1 (the mean log2-fold change was 1.39 adjusted P = 0.01; Fig. 2G). Here, KBTBD13 is linked to nemaline myopathy.