Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy

S. Lucioli, B. Giusti, E. Mercuri, O. Camacho Vanegas, L. Lucarini, V. Pietroni, A. Urtizberea, R. Ben Yaou, M. De Visser, A. J. Van Der Kooi, C. Bönnemann, S. T. Iannaccone, L. Merlini, K. Bushby, F. Muntoni, E. Bertini, M. L. Chu, Guglielmina Pepe

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