Title: | Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy |
Journal : | American journal of human genetics (The), 92, 2 |
Authors: | Bohm J, Author ; Chevessier F ; de Paula AM ; Koch C ; Attarian S ; Feger C ; Hantaï D ; Laforet P ; Ghorab K ; Vallat JM ; Fardeau M ; Figarella-Branger D ; Pouget J ; Romero NB ; Koch M ; Ebel C ; Levy N ; Krahn M ; Eymard B ; Bartoli M ; Laporte J, Author |
Material Type: | Article |
Publication Date: | 2013 |
Size: | p 271 |
Languages: | English |
Keywords : | calcium ; calcium balance ; endoplasmic reticulum ; genetic mutations ; immunodeficience ; muscle weakness ; skeletal muscle ; tubular aggregate myopathy ; tubular aggregates |
Lien associé : | https://www.ncbi.nlm.nih.gov/pubmed/23332920 |
Pubmed / DOI : | DOI : 10.1016/j.ajhg.2012.12.007 / Pubmed : 23332920 |
See also : |