RILPL1 and oculopharyngodistal myopathy: Subsequently, similar expansions in the noncoding regions of GAIP C-terminus-interacting-protein 1 (GIPC1), NOTCH2 N-terminal-like protein C (NOTCH2NLC), and Rab interacting lysosomal protein like 1 (RILPL1) were subsequently linked to the OPDM phenotype (Deng et al., 2020; Ogasawara et al., 2020; Xi et al., 2021; Yu et al., 2021a; An et al., 2022; Yu et al., 2022; Zeng et al., 2022; Yang et al., 2023; YU et al., 2023; Eura et al., 2024; Ma et al., 2024).