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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...
| Autores principales: | , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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Columbia University Libraries/Information Services
2018
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| Materias: | |
| 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 |