Title: | 50 years to diagnosis: Autosomal dominant tubular aggregate myopathy caused by a novel STIM1 mutation |
Journal : | Neuromuscular disorders : NMD, 25, 7 |
Authors: | Walter MC, Author ; Rossius M ; Zitzelsberger M ; Vorgerd M ; Muller Felber W ; Ertl-Wagner B ; Zhang Y ; Brinkmeier H ; Senderek J ; Schoser B |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 577 |
Languages: | English |
Keywords : | calcium flux ; case studies ; clinical presentation ; genetic mutations ; myoblast ; orbicularis oculi muscle ; STIM1 gene ; tubular aggregate myopathy |
Keywords: | Calcium imaging;Myopathy;STIM1;Tubular aggregates; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2015.04.005 / Pubmed : 25953320 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25953320 |