In contrast to the regular IF staining pattern in normal controls, our immunofluorescence analyses on muscle tissue from EBS-MD patients using corresponding antibodies demonstrated a marked disruption of the endogenous desmin network in conjunction with subsarcolemmal and sarcoplasmic desmin-, syncoilin-, and synemin-positive protein aggregates in nearly all muscle fibers (Fig. 3a and b). This evidence concerns the gene SYNM and Menkes disease.