2009•Neuromuscular DisordersRequires access

Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

Heinz Jungbluth, Suzanne Lillis, Haiyan Zhou, Stephen Abbs, Caroline A. Sewry, Michael Swash, Francesco Muntoni

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Key concepts: RYR1, Central core disease, Congenital myopathy, Malignant hyperthermia, Missense mutation, Myopathy, Muscle biopsy, Ryanodine receptor

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Late-onset axial myopathy with cores due to a novel heterozygous dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene — Research Paper | ScholarLens