Multi-minicore disease and atypical periodic paralysis associated with novel mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Haiyan Zhou, Suzanne Lillis, Ryan E. Loy, Farshid Ghassemi, Michael R. Rose, Fiona Norwood, Kerry Mills, Safa Al-Sarraj, Russell J. M. Lane, Lucy Feng, Emma Matthews, Caroline A. Sewry, Stephen Abbs, Stefan Buk, Michael Hanna, Susan Treves, Robert T. Dirksen, Gerhard Meissner, Francesco Muntoni, Heinz Jungbluth

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Biochemistry, Genetics and Molecular Biology