학술논문
STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility
Document Type
Article
Author
Zaharieva, I.T.; Sarkozy, A.; Munot, P.; Manzur, A.; Feng, L.; Phadke, R.; Sewry, C.A.; Muntoni, F.; Holmes, C.; Williams, G.; O'Grady, G.; Rendu, J.; Fauré, J.; Malfatti, E.; Romero, N.B.; Amthor, H.; Quijano-Roy, S.; Servais, L.; Urtizberea, J.A.; Neto, O.A.; Zanoteli, E.; Donkervoort, S.; Foley, A.R.; Bönnemann, C.G.; Taylor, J.; Dixon, J.; Poke, G.; Holder, M.; Yum, S.; Medne, L.; Bastaki, L.; Davis, M.R.; Jungbluth, H.; Bachmann, C.; Treves, S.
Source
In: Human Mutation . (Human Mutation, December 2018, 39(12):1980-1994)
Subject
Language
English
ISSN
10981004
10597794
10597794