Title: | Clinical, histological and genetic characterisation of patients with tubular aggregate myopathy caused by mutations in STIM1 |
Journal : | Journal of medical genetics, 51, 12 |
Authors: | Bohm J ; Chevessier F ; Koch C ; Peche GA ; Mora M ; Morandi L ; Pasanisi B ; Moroni I ; Tasca G ; Fattori F ; Ricci E ; Pénisson-Besnier I ; Nadaj-Pakleza A ; Fardeau M ; Joshi PR ; Deschauer M ; Romero NB ; Eymard B ; Laporte J |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 824 |
Languages: | English |
Keywords : | electron microscopy ; genetic mutations ; genotype-phenotype correlation ; muscle histopathology ; STIM1 gene ; tubular aggregate myopathy |
Pubmed / DOI : | DOI : 10.1136/jmedgenet-2014-102623 / Pubmed : 25326555 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25326555 |
See also : |