Fig. 39.1
Haematoxylin-Eosin stained section (a) shows marked variation in fibre size with disorganized internal cytoarchitecture in a proportion of the large fibres. NADH histochemical preparation (b) highlights the whorled and lobulated appearance of many fibres. Immunostaining for spectrin (c) shows preserved sarcolemmal labelling in all fibres. Immunostaining for dysferlin (d) shows preserved expression in a proportion of the fibres (blue arrowhead), while in some fibres there is secondary reduction in the sarcolemmal labelling (black arrowhead). Scale bar: 50 μm (Image courtesy of Zane Jaunmuktane and Sebastian Brandner)
Diagnosis
Probable Limb Girdle Muscular Dystrophy Type 2A–calpainopathy associated with c.1795dupA (p.Thr599AsnfsX33),a known pathogenic mutation, and c.1518 T > C (p.Ile506Thr), a novel sequence variant, in CAPN3 gene.