For example, SIL1 is one of the main co-chaperones of BiP involved in the ATP-ADP cycle, and recessive SIL1 mutations have been associated with MSS characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness, and delayed psychomotor development as well as axonal degeneration and disintegration of the neuromuscular junctions (Phan et al., 2019). The gene discussed is AQP1; the disease is Marinesco-Sjogren syndrome.