Title: | Collagen type VI-related myopathy |
Journal : | Practical Neurology, 17, 5 |
Authors: | de Souza PVS ; Bortholin T ; Pinheiro JRS ; Naylor FGM ; Pinto WBVR ; Oliveira ASB |
Material Type: | Article |
Publisher: | England, 10/2017 |
Size: | p 406 |
Languages: | English |
Keywords : | case studies ; collagen VI related disease ; gène COL6A2 ; male ; muscular collagenopathy ; myopathie de Bethlem ; teenagers |
Keywords: | Bethlem myopathy;COL6A2;Ullrich congenital muscular dystrophy;myopathy; |
Pubmed / DOI : | Pubmed : 28578317 / DOI : 10.1136/practneurol-2017-001661 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/28578317 |