Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia

Esther Meyer, Keren J. Carss, Julia Rankin, John M. E. Nichols, Detelina Grozeva, Agnel P. Joseph, Niccolo E. Mencacci, Apostolos Papandreou, Joanne Ng, Serena Barra, Adeline Ngoh, Hilla Ben-Pazi, Michel A. Willemsen, David Arkadir, Angela Barnicoat, Hagai Bergman, Sanjay Bhate, Amber Boys, Niklas Darin, Nicola FouldsNicholas Gutowski, Alison Hills, Henry Houlden, Jane A. Hurst, Zvi Israe, Margaret Kaminska, Patricia Limousin, Daniel Lumsden, Shane Mckee, Shibalik Misra, Shekeeb S. Mohammed, Vasiliki Nakou, Joost Nicolai, Magnus Nilsson, Hardev Pall, Kathryn J. Peall, Gregory B. Peters, Prab Prabhakar, Miriam S. Reuter, Patrick Rump, Reeval Sege, Margje Sinnema, Martin Smith, Peter Turnpenny, Susan M. White, Dagmar Wieczorek, Sarah Wiethoff, Brian T. Wilson, Gidon Winter, Christopher Wragg, UK10K Consortium, Deciphering Dev Disorders Study, NIHR BioResource Rare

Research output: Contribution to journalArticleAcademicpeer-review

Original languageEnglish
Pages (from-to)223-237
Number of pages15
JournalNature Genetics
Volume49
Issue number2
DOIs
Publication statusPublished - Feb 2017

Keywords

  • BRAIN IRON ACCUMULATION
  • PROTEIN STABILITY
  • KABUKI SYNDROME
  • METHYLATION
  • DISORDERS
  • NEURODEGENERATION
  • MECHANISMS
  • VARIANTS
  • LEUKEMIA
  • UPDATE

Cite this

Meyer, E., Carss, K. J., Rankin, J., Nichols, J. M. E., Grozeva, D., Joseph, A. P., Mencacci, N. E., Papandreou, A., Ng, J., Barra, S., Ngoh, A., Ben-Pazi, H., Willemsen, M. A., Arkadir, D., Barnicoat, A., Bergman, H., Bhate, S., Boys, A., Darin, N., ... NIHR BioResource Rare (2017). Mutations in the histone methyltransferase gene KMT2B cause complex early-onset dystonia. Nature Genetics, 49(2), 223-237. https://doi.org/10.1038/ng.3740