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STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility

Zaharieva, Irina T ; Sarkozy, Anna ; Munot, Pinki ; Manzur, Adnan ; O'Grady, Gina ; Rendu, John ; Malfatti, Eduardo ; Amthor, Helge ; Servais, Laurent ; Urtizberea, J. Andoni ; Neto, Osorio Abath ; Zanoteli, Edmar ; Donkervoort, Sandra ; Taylor, Juliet ; Dixon, Joanne ; Poke, Gemma ; Foley, A. Reghan ; Holmes, Chris ; Williams, Glyn ; Holder, Muriel ; Yum, Sabrina ; Medne, Livija ; Quijano-Roy, Susana ; Romero, Norma B ; Fauré, Julien ; Feng, Lucy ; Bastaki, Laila ; Davis, Mark R ; Phadke, Rahul ; Sewry, Caroline A ; Bönnemann, Carsten G ; Jungbluth, Heinz ; Bachmann, Christoph ; Treves, Susan ; Muntoni, Francesco

Human mutation, 2018, Vol.39 (12), p.1980-1994 [Peer Reviewed Journal]

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