EPG5 and X-linked myopathy with excessive autophagy: Whilst numerous vacuoles on both light and electron microscopy are the most ominous finding and define the EPG5-related skeletal muscle myopathy as a primary vacuolar myopathy, vacuoles can be absent or inconspicuous and other features may be equally or more prominent, including marked variability in fibre size with type 1 predominance and atrophy (fibre type disproportion), increase in internal and centralized nuclei, and increased glycogen storage.