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; Zanoteli, Edmar (Human mutation, 2018)