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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
S. Løseth, S. Lillis, T. Torbergsen, C. Jonsrud, S. Lindal, P. Maddison, F. Muntoni, C. Sewry, S. Abbs, V. Straub, H. JungbluthVolume:
21
Year:
2011
Language:
english
DOI:
10.1016/j.nmd.2011.06.937
File:
PDF, 49 KB
english, 2011