EPG5-related Vici syndrome, the paradigmatic disorder of defective autophagy, shows a consistently associated myopathy, on the histopathological level characterized by increased fiber size variability, increased (central) nucleation, fiber type disproportion with predominance of type 1 fibers, vacuolization, increased glycogen storage and variable mitochondrial abnormalities, including respiratory chain enzyme abnormalities [79,88,173]. The gene discussed is EPG5; the disease is myopathy.