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Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome

Finsterer, Josef; Scorza, Fulvio A.; Fiorini, Ana C.; Scorza, Carla A.; Almeida, Antonio Carlos

This letter was written in response to an article called "Adult-onset generalized dystonia as the main manifestation of MEGDEL syndrome", about a 31-year-old male with 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like (MEGDEL) syndrome due to a compound heterozygote variant in the SERAC1 gene. The article raised a number of comments and concerns, which the authors outline in this letter

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Title
Tremor and Other Hyperkinetic Movements
DOI
https://doi.org/10.7916/D8795MXR

More About This Work

Academic Units
Center for Parkinson's Disease and Other Movement Disorders
Published Here
February 14, 2019

Notes

This letter was written in response to:

Giron C, Roze E, Degos, B, Méneret A, Jardel C, Lannuzel A, et al. Adult-onset generalized dystonia as the main manifestation of MEGDEL syndrome. Tremor Other Hyperkinet Mov. 2018; 8. doi: 10.7916/D8VM5VBQ