Histological Findings
Histological examination of HSPB8 Myopathy reveals features characteristic of myofibrillar myopathy. Muscle biopsies typically show fatty replacement, aggregates, rimmed vacuoles, and endomysial fibrosis (Al-Tahan et al, 2019). The pathology observed in HSPB8 Myopathy is similar to that seen in myopathies caused by gene defects in other components of the CASA complex, such as BAG3 and DNAJB6.