Title: | STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility |
Journal : | Human mutation, 39, 12 |
Authors: | Zaharieva IT, Author ; 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 ; Bonnemann CG ; Jungbluth H ; Bachmann C ; Treves S ; Muntoni F |
Material Type: | Article |
Publication Date: | 2018 |
Size: | p 1980 |
Languages: | English |
Keywords: | STAC3;congenital myopathy;excitation-contraction coupling;malignant hyperthermia; |
Pubmed / DOI : | DOI : 10.1002/humu.23635 / Pubmed : 30168660 |
N° Profil MNM : | 2018091 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/30168660 |
See also : |