Fig. 12
Light microscopy findings of right triceps brachialis muscle biopsy of Patient 6. Muscle with variation in fibre calibre, isolated atrophic fibres (yellow arrows in a, b, c, and j), slight increase in intrasarcoplasmic lipid content (yellow arrow in d), predominance of 95.1% type 1 fibres (dark fibre with yellow * in e) with 4.9% type 2 fibres (light fibre with white * in e), lobulated-like fibres with irregular subsarcolemmal mitocondrial proliferation but without the irregular sarcolemmal membrane of characteristic lobulated-trabeculated fibres (yellow arrows in f, g, and h), acid phosphatase activity (yellow arrow in i), immunohistochemistry with negative intrasarcoplasmic telethonin reaction (yellow arrow in k), compared to the normal control (yellow arrow in l) (a HE 400x, b Modified Gomori trichrome 400x, c PAS 400x, d Oil-red-O 200x, e ATPase pH4.6 100x, f SDH 200x, g COX-SDH 100x, h NADH 20x, i Acid phosphatase 200x, j Nonspecific esterase 200x, Immunoperoxidase Antibody anti-telethonin (G-11 sc-25327, Santa Cruz Biotechnology, Inc. at 1:50 dilution) 200x Patient (k), and 200x (l) Control)