Four of these sHSP genes carry known mutations which have been associated with neuromuscular disease phenotypes in humans: HspB1 (Hsp27, Hsp25), HspB3, HspB5 (αB-crystallin), and HspB8 (Hsp22) (Datskevich et al. 2012; Benndorf et al. 2014; Vendredy et al. 2020), not counting polymorphisms or other sequence variants with unclear relation to disease. The gene discussed is HSPB8; the disease is neuromuscular disease.