2018 Articles
Dystonia is a Common Phenotypic Feature of MEGDEL Syndrome
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
Subjects
Files
- 568-10997-1-PB.pdf application/pdf 295 KB Download File
Also Published In
- 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