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Fig. 3 | Orphanet Journal of Rare Diseases

Fig. 3

From: A recurrent single-amino acid deletion (p.Glu500del) in the head domain of ß-cardiac myosin in two unrelated boys presenting with polyhydramnios, congenital axial stiffness and skeletal myopathy

Fig. 3

A–D Patient 1: Stained muscle biopsy from adductor muscle at the age of 18 months. A Note increased variability of muscle fiber diameters, endomysial fibrosis (open arrows), endomysial fat cells (asterisks) and muscle fibers with internal myonuclei (arrows). H and E. B Staining for nicotinamide adenine dinucleotide tetrazolium reductase (NADH-TR): note a-reactive, irregularly shaped sarcoplasmatic structures (arrows) displaying a reducing body. C Immunohistochemistry using an antibody against type-I myosin displays type-I fiber predominance. D Electron microscopy: electrodense, granulofilamentous sarcoplasmic structures resembling a “reducing body” (arrows). (E + F) Patient 2: Stained muscle biopsy (E) H and E: Increased variability of muscle fiber diameters and proliferation of endomysial connective tissue (arrows). (F) Cytochrome-c-oxidase: uniformly stained muscle fibers compatible with type-I fiber predominance

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172