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Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome Cover

Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome

Tremor and Other Hyperkinetic Movements
Volume 8 (2018): Issue 0
By: Camille Giron,  Emmanuel Roze,  Bertrand Degos,  Aurélie Méneret,  Claude Jardel,  Annie Lannuzel and  Fanny Mochel  
Open Access
|Apr 2018

References

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    WortmannSBVazFMGardeitchikTVissersLELMRenkemaGHSchuurs-HoeijmakersJHMet alMutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafnessNat Genet201244797802doi: http://dx.doi.org/10.1038/ng.232522683713
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  2. 2
    MaasRRIwanicka-PronickaKUcarSKAlhaddadBAlSayedMWortmannSBet alProgressive deafness-dystonia due to serac1 mutations: a study of 67 casesAnn Neurol20178210041015doi: http://dx.doi.org/10.1002/ana.2511029205472
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  3. 3
    WortmannSBvan HasseltPMBaricIEyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndromeNeuropediatrics20154698103doi: http://dx.doi.org/10.1055/s-0034-139975525642805
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DOI: https://doi.org/10.5334/tohm.445 | Journal eISSN: 2160-8288
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Language: English
Submitted on: Mar 1, 2018
Accepted on: Mar 26, 2018
Published on: Apr 18, 2018
Published by: Columbia University Libraries/Information Services
In partnership with: Paradigm Publishing Services
Publication frequency: 1 issue per year
Keywords:
MEGDEL syndrome,
SERAC1,
adult,
dystonia,
Leigh syndrome

© 2018 Camille Giron, Emmanuel Roze, Bertrand Degos, Aurélie Méneret, Claude Jardel, Annie Lannuzel, Fanny Mochel, published by Columbia University Libraries/Information Services
This work is licensed under the Creative Commons License.

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