Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

•Large international cohort in a collaborative effort to detail AR RYR1-CNM patients.•Ocular, facial, respiratory, and thoracospinal involvement were frequent but variable.•Nuclear centralization and NADH abnormalities may tend to increase with age.•Imaging data suggest common patterns similar to other RYR1-related disorders.