(a) Muscle MRI demonstrating fatty replacement of most thigh muscles with relative sparing of the sartorius and gracilis (arrows) and a central area of abnormal signal within the rectus femoris (asterisk). (b) Calf muscles were affected to a lesser degree and a T1-hyperintense rim could be observed between the soleus and medial gastrocnemius (arrows). (c) H&E stained sections showed marked myopathic changes with fibre hypertrophy and atrophy, increased internal nuclei and diffuse endomysial fibrosis with accompanying focal fat infiltration. (d) Immunofluorescence double labeling for collagen VI (labeled green) with another basal lamina marker perlecan (labeled red) showed marked reduction of collagen VI at the basal lamina of most fibres with excess deposition in the endomysium and perimysium. Traces of collagen VI (composite yellow; arrows) could be seen on some fibres