NOTCH2NLC and oculopharyngodistal myopathy: Recently, OPDM was shown to be caused by a CGG repeat expansion in the noncoding region of the Low-density lipoprotein receptor-related protein 12 (LRP12), GIPC PDZ domain containing family member 1 (GIPC1), Notch homolog 2 N-terminal-like protein C (NOTCH2NLC), or Rab interacting lysosomal protein like 1 (RILPL1) (OPDM_LRP12, OPDM_GIPC1, OPDM_NOTCH2NLC, OPDM_RILPL1) gene [2, 6, 10, 17–19].