In general, a severe disruption of the extrasarcomeric IF cytoskeleton was observed, resulting in a drastic reduction or a complete loss of the characteristic cross-striated desmin staining pattern in longitudinal sections of EBS-MD muscle (Figure 3), while cross sections revealed the accumulation of cytoplasmic and subsarcolemmal desmin aggregates (Figure 4A) [23,24,48]. Here, DES is linked to Menkes disease.