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Molecular mechanisms and phenotypic variation in RYR1-related congenital myopathies

Zhou, Haiyan ; Jungbluth, Heinz ; Sewry, Caroline A. ; Feng, Lucy ; Bertini, Enrico ; Bushby, Kate ; Straub, Volker ; Roper, Helen ; Rose, Michael R. ; Brockington, Martin ; Kinali, Maria ; Manzur, Adnan ; Robb, Stephanie ; Appleton, Richard ; Messina, Sonia ; D'Amico, Adele ; Quinlivan, Ros ; Swash, Michael ; Müller, Clemens R. ; Brown, Susan ; Treves, Susan ; Muntoni, Francesco

In: Brain, 2007, vol. 130, no. 8, p. 2024-2036