Title: | Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis |
Journal : | Proceedings of the national Academy of sciences of the United States of America, 111, 11 |
Authors: | Nesin V ; Wiley G ; Kousi M ; Ong EC ; Lehmann T ; Nicholl DJ ; Suri M ; Shahrizaila N ; Katsanis N ; Gaffney PM ; Wierenga KJ ; Tsiokas L |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 4197 |
Languages: | English |
Keywords : | calcium channels ; genetic mutations ; idiopathic inflammatory myopathy ; Stormorken syndrome ; tubular aggregate myopathy |
Keywords: | calcium signaling;human genetics; |
Pubmed / DOI : | DOI : 10.1073/pnas.1312520111 / Pubmed : 24591628 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24591628 |