DYT27: Dystonia 27
Evidence-based neurology checklist on dyt27: dystonia 27: Genetics This is caused by mutations in the COL6A3 gene on chromosome 2 The transmission is autosomal recessive The onset is in the first two decades Clinical features
Genetics
- This is caused by mutations in the COL6A3 gene on chromosome 2
- The transmission is autosomal recessive
- The onset is in the first two decades
Clinical features
References
- Zech M, Lam DD, Francescatto L, et al. Recessive mutations in the α3 (VI) collagen gene COL6A3 cause early-onset isolated dystonia. Am J Hum Genet 2015; 96:883-893.
- Jochim A, Zech M, Gora-Stahlberg G, Winkelmann J, Haslinger B. The clinical phenotype of early-onset isolated dystonia caused by recessive COL6A3 mutations (DYT27). Mov Disord 2016; 31:747-750.
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- DYT28: Dystonia 28
- DYT29: Dystonia 29
- DYT30: Dystonia 30
- DYT31: Dystonia 31
- DYT32: Dystonia 32
- DYT33: Dystonia 33
- DYT34: Dystonia 34
- DYT35: Dystonia 35
