Kumutpongpanich T, Ogasawara M, Ozaki A, et al. - This study sought to distinguish and define the clinicopathologic features of patients with oculopharyngeal muscular dystrophy (OPDM)_LRP12. Between January 1, 1978, and December 31, 2020, researchers recruited a total of 208 patients with a clinical or clinicopathologic diagnosis of oculopharyngeal muscular dystrophy (OPDM). They distinguished 65 Japanese patients with OPDM (40 men [62%]; mean [SD] age at onset, 41.0 [10.1] years) from 59 families with CGG repeat expansions in LRP12. Researchers imply that OPDM_LRP12 is the most frequent OPDM subtype in Japan and is defined by oculopharyngeal weakness, distal myopathy that particularly affects the soleus, and gastrocnemius muscles, and rimmed vacuoles in muscle biopsy.