Fig. 7
Electron microscopy findings of right biceps brachialis muscle biopsy of Patient 3. Muscle with ring fibres (yellow * in a, yellow arrow in d), characterized by a rim of perpendicularly oriented myofibrils around the fibre. Myofibrillar loss with glycogen accumulation (yellow * in b), nuclear abnormalities with indentations, and irregularities (yellow arrows in c, f, and g) of the nuclear membrane. Subsarcolemmal accumulation of mitochondriae (red arrow in c), membrane irregularities (yellow arrow in e), intrasarcoplasmic filamentous inclusions from 15 to 19 nm diameter (inset in h, and yellow arrow in i) (i is the inset area in h) (Transmission electron microscopy a 2,500x, b 3,000x, c 4,000x, d 4,000x, e 8,000x, f 10,000x, g 12,000x, h 10,000x, and i 60,000x)