Figure 3
Eye and muscle abnormalities in subject S3 at age 27 years. (a) Eye examination displays non-progressive cataracta coerulea. (b) (i) H&E stained sections show muscle fibers with minor variation in diameter and few internal nuclei (arrows). (ii) COX/SDH staining depicts some fibers with little subsarcolemnal mitochondrial aggregates (arrow). (iii) No upregulation is seen when using antibodies against MHC neonatal in the muscle fibers. (iv) Staining with antibodies against MHC slow shows normal distribution of type 1 or 2 fibers. (v) A few muscle fibers show myofibrillar disintegration with antibodies against myotilin (arrow). (vi) Sarcolemmal α-dystroglycan expression is normal. (vii) Ultrastructural analysis shows that the sarcolemma is focally folded with moderate subsarcolemmal accumulation of mitochondria (arrows). The myofibrillar architecture shows focal mild alterations with mitochondrial aggregates and extralysosomal glycogen (arrow) (viii) and focal unspecific loss of z-bands (arrows) (ix). (c) T1-weighted muscle MR images of S3 at age 30 years showing marked replacement of all pelvic muscles (gluteus maximus, iliacus, obturator internus, pectineus, and psoas muscles) by fat and connective tissue. At the upper thigh level, the vastus intermedius, the abductor magnus and brevis muscles were also severely affected whereas the vastus lateralis muscle was relatively spared. Similarly, the lower thigh muscles appeared well preserved.
