Fig. 1From: Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMDClinical and histological findings. Picture of the patient (a): note the generalized muscle hypertrophy. Whole body muscle CT scan (b): characteristic “inside-to outside” involvement of the thighs (box); zebra pattern (arrows) of gluteus maximus; “central shadow” of rectus femoris (arrowheads); fibro-fatty replacement is also present in deltoids, subscapularis and infraspinatus, serratus, latissimus dorsi, cervical paraspinalis and rectus abdominis, iliopsoas, tensor fascia lata and gluteus maximus with while lower leg muscles are spared. Deltoid muscle biopsy at 60 years (c): rare cluster of subsarcolemmal rods (GT) and prevalence and hypotrophy of type1 fibres (NADH). Paraspinal muscle biopsy at 61 years (d): several fibres showing cytoplasmic and subsarcolemmal rods (GT) and irregular shaped areas devoid oxidative stain (COX/SDH)Back to article page