Clinicopathologic Features of Oculopharyngodistal Myopathy With<i>LRP12</i>CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes

Abstract

This study suggests that OPDM_LRP12 is the most frequent OPDM subtype in Japan and is characterized by oculopharyngeal weakness, distal myopathy that especially affects the soleus and gastrocnemius muscles, and rimmed vacuoles in muscle biopsy.