Fig. 5
Electron microscopy findings of right vastus lateralis muscle biopsy of Patient 2. Muscle with atrophic fibres (yellow arrows in a, and b), ring fibres (red arrow in c), nuclear internalization (yellow arrow in c), intrasarcoplasmic lipid accumulation (arrow in d), nuclear irregularities including pyknosis (arrow in c), invaginations (arrow in e), and pseudoinclusions (red arrow in f) (Transmission electron microscopy a 2,500x, b 2,000x, c 3,000x, d 5,000x, e 6,000x, f 15,000x)