SIL1 and Marinesco-Sjögren syndrome: In 2005, recessive SIL1 mutations were linked to the phenotypical manifestation of Marinesco–Sjögren syndrome (MSS; MIM: 248800) (Figure 8), a rare autosomal recessively inherited multisystemic disorder characterized by a vacuolar myopathy, congenital or infantile manifesting cataracts and cerebellar atrophy leading to ataxia (Figure 8b) [276,277].