These include NOTCH2NLC repeat expansion in NIID and intronic CCG repeat expansions in NUTM2B-AS1, LRP12 and GIPC1 causing oculopharyngeal myopathy with leukoencephalopathy, oculopharyngodistal myopathy (OPDM) types 1 and 2, respectively.57 The gene discussed is NUTM2B; the disease is oculopharyngodistal myopathy.