Title: | Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum |
Journal : | Journal of Neuromuscular Diseases, 3, 2 |
Authors: | Cruz S, Author ; Figueroa-Bonaparte S ; Gallardo E ; de Becdelievre A ; Gartioux C ; Allamand V ; Piñol P ; Garcia MA ; Jimenez-Mallebrera C ; Llauger J ; González-Rodríguez L ; Cortes Vicente E ; Illa I ; Diaz-Manera J |
Material Type: | Article |
Publication Date: | 2016 |
Size: | p 267 |
Languages: | English |
Keywords: | Bethlem disease;Ulrich disease;collagen VI deficiency;muscle MRI;muscle dystrophy; |
Pubmed / DOI : | DOI : 10.3233/JND-150135 / Pubmed : 27854213 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/27854213 |