While neuropathological and genetic studies have established the crucial involvement of TDP-43 proteinopathy in the pathogenesis of ALS/FTD and related neurodegenerative disorders [57], increasing evidence also suggests a role for TDP-43 in muscular disorders, including sIBM and other rimmed vacuole myopathies [58]. Here, TARDBP is linked to myopathy, myofibrillar, 13, with rimmed vacuoles.