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, Faure J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bonnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F

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

Hum Mutat 39:1980-1994 (2018)
DOI:10.1002/humu.23635