The marked similarities between the EPG5-related myopathy and CNM/XLMTM are particularly intriguing, considering that many of the major genes implicated in these conditions – MTM1 (myotubularin 1), DNM2 (dynamin 2) and BIN1 (bridging integrator 1) – play an important role in intracellular membrane trafficking and have been linked with defective autophagy in human cells and animal models [147,177,178]. The gene discussed is EPG5; the disease is myopathy.