Corresponding to the observed clinical overlap, impaired autophagy and nuclear abnormalities similar to those observed in primary autophagy disorders have been described in muscle tissue from SIL1-deprived mice, an animal model of MSS [195–197]; although the precise basis for this observation remains uncertain, disturbance of the autophagy pathway at the phagophore stage is one plausible hypothesis, considering the prominent role of SIL1 at the ER. This evidence concerns the gene SIL1 and Marinesco-Sjogren syndrome.