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

Zaharieva, IT; Sarkozy, A; Munot, P; Manzur, A; O'Grady, G; Rendu, J; Malfatti, E; ... Muntoni, F; + view all Zaharieva, IT; Sarkozy, A; Munot, P; Manzur, A; O'Grady, G; Rendu, J; Malfatti, E; Amthor, H; Servais, L; Urtizberea, JA; Neto, OA; Zanoteli, E; Donkervoort, S; Taylor, J; Dixon, J; Poke, G; Foley, AR; Holmes, C; Williams, G; Holder, M; Yum, S; Medne, L; Quijano-Roy, S; Romero, NB; Fauré, J; Feng, L; Bastaki, L; Davis, MR; Phadke, R; Sewry, CA; Bönnemann, CG; Jungbluth, H; Bachmann, C; Treves, S; Muntoni, F; - view fewer (2018) STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. Human Mutattion 10.1002/humu.23635 . (In press).

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