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

BACKGROUND: MEGDEL syndrome (3-MethylGlutaconic aciduria, Deafness, Encephalopathy, Leigh-like syndrome) is a severe neurometabolic disease with infantile onset. PHENOMENOLOGY SHOWN: Progressive and marked dystonia over a 6-year period in an adult male with MEGDEL syndrome. EDUCATIONAL VALUE: Genera...

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Detalles Bibliográficos
Autores principales: Giron, Camille, Roze, Emmanuel, Degos, Bertrand, Méneret, Aurélie, Jardel, Claude, Lannuzel, Annie, Mochel, Fanny
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Columbia University Libraries/Information Services 2018
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Video Abstracts
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910540/
https://www.ncbi.nlm.nih.gov/pubmed/29686941
http://dx.doi.org/10.7916/D8VM5VBQ

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5910540/
https://www.ncbi.nlm.nih.gov/pubmed/29686941
http://dx.doi.org/10.7916/D8VM5VBQ

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