RILPL1 and oculopharyngodistal myopathy: Furthermore, an expansion of CGG repeats in the 5′UTR of the NOTCH2NLC gene was identified in OPDM cases with variable neurological manifestations (Ogasawara et al., 2020; Yu et al., 2021), and an expansion of CGG repeats within the 5′UTR of the RILPL1 gene was recently reported in medRxiv in affected individuals of a large Chinese family with OPDM (Yang et al., 2021).