To further evaluate this novel DNA methylation pattern, we tested the DMPs against our test set of XLMTM samples (n = 2 with missense variants and n = 5 with a LOF variants, i.e. nonsense or frameshift), plus n = 5 patients with another form of severe myopathy (ACTA1-related nemaline myopathy) (Fig. 10a, b). The gene discussed is ACTA1; the disease is nemaline myopathy.