Based on the observations above, histopathological features in EPG5-related Vici syndrome may mimic a number of primary neuromuscular disorders, in particular the vacuolar myopathies (Malicdan and Nishino, 2012) and centronuclear myopathies (Jungbluth et al., 2008), conditions that, interestingly, have been linked with primary and secondary defects of the autophagy pathway (Jungbluth and Gautel, 2014). The gene discussed is EPG5; the disease is autosomal dominant centronuclear myopathy.