Figure 2
Muscle abnormalities in subject S2 at age 8 years. (i) H&E stained sections show muscle fibers with increased variation of diameter and few fibers with internalized nuclei (arrows). (ii) In the COX/SDH staining some fibers show subsarcolemmal mitochondrial aggregates (arrows). (iii) MHC-neonatal expression in few fibers indicates regenerative muscle fiber (arrows). (iv) Staining with MHC slow antibodies shows type1 fiber predominance. (v) Antibodies against myotilin display a few fibers with subtle myofibrillar disintegration (arrow). (vi) Sarcolemmal α-dystroglycan expression is reduced in a few fibers (arrow). Ultrastructural analysis shows that the sarcolemma is focally folded with subsarcolemmal accumulation of mitochondria (arrows) (vii) and intermyofibrillar accumulation of mitochondria (arrows) (viii), and focal Z-band abnormalities (arrows) (ix).
