Fig. 4
From: ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases
Muscle biopsy analysis. Quadriceps muscle biopsy of the patient with a mutation in the ISPD gene, performed at 4 years of age. Diffuse variation in fiber size, basophilic regenerating fibers, increased internal nuclei, hypercontracted fibers, and moderate increase of endomysial connective tissue were shown, characterising a typical dystrophic pattern (a haematoxylin and eosin, 20×). In the same patient, α-DG IHC (b clone VIA4-1, 20×) revealed absence of signal (c control muscle, 20×)