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P3.43 An adult-onset, slowly progressive axial myopathy with cataracts due to mutations in the skeletal muscle ryanodine receptor (RYR1) gene

✍ Scribed by S. Løseth; S. Lillis; T. Torbergsen; C. Jonsrud; S. Lindal; P. Maddison; F. Muntoni; C. Sewry; S. Abbs; V. Straub; H. Jungbluth

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