SGCE and myoclonus dystonia: motor characteristics, diagnostic criteria and clinical predictors of genotype

Myoclonus dystonia syndrome (MDS) is a young-onset movement disorder. A proportion of cases are due to mutations in the maternally imprinted SGCE gene. We assembled the largest cohort of MDS patients to date, and determined the frequency and type of SGCE mutations. The aim was to establish the motor...

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Bibliografski detalji
Izdano u:J Neurol
Glavni autori: Peall, Kathryn J., Kurian, Manju A., Wardle, Mark, Waite, Adrian J., Hedderly, Tammy, Lin, Jean-Pierre, Smith, Martin, Whone, Alan, Pall, Hardev, White, Cathy, Lux, Andrew, Jardine, Philip E., Lynch, Bryan, Kirov, George, O’Riordan, Sean, Samuel, Michael, Lynch, Timothy, King, Mary D., Chinnery, Patrick F., Warner, Thomas T., Blake, Derek J., Owen, Michael J., Morris, Huw R.
Format: Artigo
Jezik:Inglês
Izdano: 2014
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Article
Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4495322/
https://ncbi.nlm.nih.gov/pubmed/25209853
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s00415-014-7488-3
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