Fig. 11
Electron microscopy findings of left quadriceps femoris muscle biopsy of Patient 5. Muscle with autophagic vacuoles (yellow arrow in a, c, f, g, and i), atrophic fibres with invaginations of the sarcoplasmic membrane (green arrow in a), atrophy with remnants of Z disks (blue arrows in b, e, and h), intrasarcoplasmic degeneration (yellow * in c), and subsarcolemal accumulation of mitochondria (brown arrow in d). Myofibrillar disorganization with perpendicularly oriented sarcomeres (red arrow in d) (Transmission electron microscopy a 2,500x, b 2,500x, c 4,000x, d 4,000x, e 5,000x, f 5,000x, g 5,000x, h 12,000x, and i 15,000x)