CNMs are genetically widely heterogeneous and have been attributed to X-linked recessive mutations in MTM1 encoding myotubularin [“X-linked myotubular myopathy (XLMTM)”] (Laporte et al., 1996), autosomal-dominant mutations in DNM2 encoding dynamin-2 (Bitoun et al., 2005) and the BIN1 gene encoding amphiphysin-2 (also named bridging integrator-1, BIN1, or SH3P9) (Bohm et al., 2014), and autosomal-recessive mutations in BIN1 (Nicot et al., 2007), RYR1 encoding the skeletal muscle ryanodine receptor (Wilmshurst et al., 2010), and TTN encoding titin (Ceyhan-Birsoy et al., 2013). Here, MTM1 is linked to X-linked myotubular myopathy.