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2009•Neuromuscular DisordersRequires access

G.P.1.04 An autosomal-recessive form of centronuclear myopathy is caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Jo M. Wilmshurst, S. Lillis, Hua Zhou, W. Kress, Reyhana Solomon, Alvin Ndondo, Jacquie Greenberg, C Sinclair-Smith, Enrico Bertini, C. Boennemann, Volker Straub, Rosaline C. M. Quinlivan, Caroline A. Sewry, Elizabeth Wraige, Stephen Abbs, F. Muntoni, Heinz Jungbluth

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Key concepts: RYR1, Central core disease, Congenital myopathy, Dynamin, Ryanodine receptor, Muscle biopsy, Myopathy, Skeletal muscle

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G.P.1.04 An autosomal-recessive form of centronuclear myopathy is caused by mutations in the skeletal muscle ryanodine receptor (RYR1) gene — Research Paper | ScholarLens