STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility. (Human Mutation, 2018)

(untitled) - Zaharieva, IT; Sarkozy, A; Munot, P; Manzur, A; O'Grady, G; Rendu, J; Malfatti, E; Amthor, H; Prof Laurent Servais; Urtizberea, JA; Neto, OA; Zanoteli, E; et al.