Importantly, this hypothesis is reinforced by the recent discovery that both NIID and OPDM3 can be caused by an identical CGG repeat expansion in NOTCH2NLC (Sone et al., 2019; Ishiura et al., 2019; Deng et al., 2019; Ogasawara et al., 2020; Yu et al., 2021), as well as by the identification of a novel and rare clinical entity with clinical features of both NIID and OPDM, and that was consequently named oculopharyngodistal myopathy with leukoencephalopathy (OPML, OMIM: 618637) (Ishiura et al., 2019). This evidence concerns the gene NOTCH2NLC and oculopharyngodistal myopathy.