SPEG and centronuclear myopathy: CNM is a genetic disease, caused by pathogenic variants in at least five genes: X-linked recessive CNM caused by myotubularin 1 (MTM1) (Laporte et al., 1996), autosomal-dominant CNM caused by dynamin 2 (DNM2) (Bitoun et al., 2005), and autosomal-recessive forms of CNM caused by bridging integrator 1 (BIN1) (Nicot et al., 2007), ryanodine receptor 1 (RYR1) (Wilmshurst et al., 2010) and striated muscle enriched protein kinase (SPEG) (Agrawal et al., 2014).