To date, aggrephagy has been investigated only in a limited number of diseases, reveling a pathological role in a case of FHL1-rigid spine syndrome and in a small case series of sIBM, PLIN4-related myopathy, myotilinopathies and desminopathies and oculopharyngeal muscular dystrophy. This evidence concerns the gene PLIN4 and Distal myotilinopathy.