go back to reference •• E. Meyer, K.J. Carss, J. Rankin, J.M. Nichols, D. Grozeva, A.P. Joseph, N.E. Mencacci, A. Papandreou, J. Ng, S. Barral, A. Ngoh, H. Ben-Pazi, M.A. Willemsen, D. Arkadir, A. Barnicoat, H. Bergman, S. Bhate, A. Boys, N. Darin, N. Foulds, N. Gutowski, A. Hills, H. Houlden, J.A. Hurst, Z. Israel, M. Kaminska, P. Limousin, D. Lumsden, S. McKee, S. Misra, S.S. Mohammed, V. Nakou, J. Nicolai, M. Nilsson, H. Pall, K.J. Peall, G.B. Peters, P. Prabhakar, M.S. Reuter, P. Rump, R. Segel, M. Sinnema, M. Smith, P. Turnpenny, S.M. White, D. Wieczorek, S. Wiethoff, B.T. Wilson, G. Winter, C. Wragg, S. Pope, S.J. Heales, D. Morrogh, A. Pittman, L.J. Carr, B. Perez-Duenas, J.P. Lin, A. Reis, W.A. Gahl, C. Toro, K.P. Bhatia, N.W. Wood, E.J. Kamsteeg, W.K. Chong, P. Gissen, M. Topf, R.C. Dale, J.R. Chubb, F.L. Raymond, M.A. Kurian, Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia, Nat Genet (2016). This paper represents one of the two studies elucidating KMT2B mutations as a relatively common cause of early-onset dystonia.
•• E. Meyer, K.J. Carss, J. Rankin, J.M. Nichols, D. Grozeva, A.P. Joseph, N.E. Mencacci, A. Papandreou, J. Ng, S. Barral, A. Ngoh, H. Ben-Pazi, M.A. Willemsen, D. Arkadir, A. Barnicoat, H. Bergman, S. Bhate, A. Boys, N. Darin, N. Foulds, N. Gutowski, A. Hills, H. Houlden, J.A. Hurst, Z. Israel, M. Kaminska, P. Limousin, D. Lumsden, S. McKee, S. Misra, S.S. Mohammed, V. Nakou, J. Nicolai, M. Nilsson, H. Pall, K.J. Peall, G.B. Peters, P. Prabhakar, M.S. Reuter, P. Rump, R. Segel, M. Sinnema, M. Smith, P. Turnpenny, S.M. White, D. Wieczorek, S. Wiethoff, B.T. Wilson, G. Winter, C. Wragg, S. Pope, S.J. Heales, D. Morrogh, A. Pittman, L.J. Carr, B. Perez-Duenas, J.P. Lin, A. Reis, W.A. Gahl, C. Toro, K.P. Bhatia, N.W. Wood, E.J. Kamsteeg, W.K. Chong, P. Gissen, M. Topf, R.C. Dale, J.R. Chubb, F.L. Raymond, M.A. Kurian, Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia, Nat Genet (2016).
This paper represents one of the two studies elucidating KMT2B mutations as a relatively common cause of early-onset dystonia.