SBF2 and neuromuscular disease: Similarly, mutations in the gene encoding myotubularin MTM1 or the MTMR2, MTMR5 and MTMR13 genes for myotubularin-related phosphatases cause neuromuscular diseases: X-chromosome-associated myotubular myopathy (XLMTM also called centronuclear myopathy) and CMT types: CMT4B1, CMT4B3 and CMT4B2, respectively [54], and in the case of mutations of the VAC14 gene, which encodes a scaffold protein for the PIKfyve kinase complex, result in progressive neurological disorders [61].