Title: | Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution |
Journal : | Journal of neurology, neurosurgery and psychiatry, 86, 12 |
Authors: | Deconinck N ; Richard P ; Allamand V ; Behin A ; Laforet P ; Ferreiro A ; de Becdelievre A ; Ledeuil C ; Gartioux C ; Nelson I ; Carlier RY ; Carlier P ; Wahbi K ; Romero NB ; Zabot MT ; Bouhour F ; Tiffreau V ; Lacour A ; Eymard B ; Stojkovic T |
Material Type: | Article |
Publication Date: | 2015 |
Size: | p 1337 |
Languages: | English |
Keywords : | clinical presentation ; cohort studies ; COL6 gene ; collagen VI related disease ; disease severity ; genetic mutations ; late-onset Pompe disease ; myopathie de Bethlem ; phenotypic heterogeneity |
Keywords: | collagen;genetics;myopathy;neuromuscular; |
Pubmed / DOI : | DOI : 10.1136/jnnp-2013-307245 / Pubmed : 25535305 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/25535305 |
See also : |