Oculopharyngodistal myopathy (OPDM) is a group of disorders caused by mutations in several genes such as LRP12, GIPC1, NOTCH2NLC and RILPL1 (Deng et al., 2020; Ishiura et al., 2019; Yu et al., 2022). The gene discussed is LRP12; the disease is oculopharyngodistal myopathy.