Fig. 10
Light microscopy findings of left quadriceps femoris muscle biopsy of Patient 5. Muscle biopsy with 14.9% of the fibres presenting rimmed vacuoles (yellow arrows in a, b, c, d, e, and f; green arrow in b). Nuclear clumps (white arrows in b, f, and g), endomysial fibrosis (yellow * in h), atrophy (blue arrow in h, yellow arrow in j), hypertrophy with muscle fibre splitting (yellow arrow in h), type 2 fibre predominance of 97.5% (dark fibre with yellow * in i), with 2.5% of type 1 fibres (light fibre with white * in i). Immunohistochemistry with negative intrasarcoplasmic telethonin reaction (arrow in k), compared to the normal control (arrow in l). (a HE 400x, b HE 400x, c HE 400x, d HE 400x, e HE 200x, f HE 400x, g HE 400x, h HE 200x, i ATPase pH9.4 100x, j NADH 200x. Immunoperoxidase Antibody anti-telethonin (G-11 sc-25327, Santa Cruz Biotechnology, Inc. at 1:50 dilution) Patient (k) 100x, and Control (l) 200x)