Title: | Childhood onset tubular aggregate myopathy associated with de novo STIM1 mutations |
Journal : | Journal of neurology, 261, 5 |
Authors: | Hedberg C ; Niceta M ; Fattori F ; Lindvall B ; Ciolfi A ; D'Amico A ; Tasca G ; Petrini S ; Tulinius M ; Tartaglia M ; Oldfors A ; Bertini E |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 870 |
Languages: | English |
Keywords : | case studies ; genetic mutations ; infants ; muscle biopsies ; muscle histopathology ; newborn infants ; pediatric form ; tubular aggregate myopathy |
Pubmed / DOI : | DOI : 10.1007/s00415-014-7287-x / Pubmed : 24570283 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24570283 |