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 Barral,Adeline Ngoh,Hilla Ben-Pazi,Michel A Willemsen,David Arkadir,Angela Barnicoat,Hagai Bergman,Sanjay Bhate,Amber Boys,Niklas Darin,Nicola Foulds,Nicholas Gutowski,Alison Hills,Henry Houlden,Jane A Hurst,Zvi Israel,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 Segel,Margje Sinnema,Martin Smith,Peter Turnpenny,Susan M White,Dagmar Wieczorek,Sarah Wiethoff,Brian T Wilson,Gidon Winter,Christopher Wragg,Simon Pope,Simon J H Heales,Deborah Morrogh,Alan Pittman,Lucinda J Carr,Belen Perez-Dueñas,Jean-Pierre Lin,Andre Reis,William A Gahl,Camilo Toro,Kailash P Bhatia,Nicholas W Wood,Erik-Jan Kamsteeg,Wui K Chong,Paul Gissen,Maya Topf,Russell C Dale,Jonathan R Chubb,F Lucy Raymond,Manju A Kurian

NATURE GENETICS（2016）

引用 189|浏览16

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摘要

Manju Kurian and colleagues report heterozygous variants in KMT2B in 27 unrelated individuals with a complex progressive childhood-onset dystonia, often associated with a typical facial appearance. Their findings highlight a clinically recognizable form of dystonia and demonstrate a crucial role for KMT2B in the physiological control of voluntary movement.

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关键词

Neurodevelopmental disorders,Neuroscience,Neurodevelopmental disorders,Neuroscience

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