Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution
N Deconinck, P Richard, V Allamand, A Behin, P Lafôret, A Ferreiro, A de Becdelievre, C Ledeuil, C Gartioux, I Nelson, R Y Carlier, P Carlier, K Wahbi, N Romero, M T Zabot, F Bouhour, V Tiffreau, A Lacour, B Eymard, T Stojkovic
Journal of Neurology, Neurosurgery & Psychiatry Dec 2015, 86 (12) 1337-1346; DOI: 10.1136/jnnp-2013-307245