Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants

Dystonia is a rare movement disorder which is characterized by sustained or intermittent muscle contractions causing abnormal and often repetitive movements, postures, or both. The two most common forms of adult-onset focal dystonia are cervical dystonia (CD) and benign essential blepharospasm (BSP)...

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Detalles Bibliográficos
Autores principales: Salamon, András, Nagy, Zsófia Flóra, Pál, Margit, Szabó, Máté, Csősz, Ádám, Szpisjak, László, Gárdián, Gabriella, Zádori, Dénes, Széll, Márta, Klivényi, Péter
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10341391/
https://www.ncbi.nlm.nih.gov/pubmed/37445923
http://dx.doi.org/10.3390/ijms241310745

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