A novel compound heterozygous mutation of COL6A3 in Chinese patients with isolated cervical dystonia

BACKGROUND: The etiology and pathogenesis of idiopathic dystonia remain obscure. Recent studies revealed that compound heterozygous mutations in collagen type VI alpha-3 gene COL6A3 may cause recessive isolated dystonia (DYT)-27. However, whether COL6A3 mutations are associated with Chinese patients...

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Detalles Bibliográficos
Autores principales: Wu, Rui, Dou, Weikang, Zhou, Huimin, Shi, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110855/
https://www.ncbi.nlm.nih.gov/pubmed/37082441
http://dx.doi.org/10.3389/fneur.2023.1105760

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10110855/
https://www.ncbi.nlm.nih.gov/pubmed/37082441
http://dx.doi.org/10.3389/fneur.2023.1105760

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