Title: | A novel gain-of-function mutation in ORAI1 causes late-onset tubular aggregate myopathy and congenital miosis |
Journal : | Clinical genetics, 91, 5 |
Authors: | Garibaldi M, Author ; Fattori F ; Riva B ; Labasse C ; Brochier G ; Ottaviani P ; Sacconi S ; Vizzaccaro E ; Laschena F ; Romero NB ; Genazzani A ; Bertini E ; Antonini G |
Material Type: | Article |
Publication Date: | 2017 |
Size: | p 780 |
Languages: | English |
Keywords: | CRAC channel;ORAI1;Stormorken syndrome;congenital miosis;muscle MRI;tubular aggregate myopathy; |
Pubmed / DOI : | DOI : 10.1111/cge.12888 / Pubmed : 27882542 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27882542 |