DYT-TUBB4A (DYT4 Dystonia): New Clinical and Genetic Observations

OBJECTIVE: To report 4 novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization. METHODS: We screened 4 families including a total of 11 definitely affected members with a clinical picture resembling the original description. RESULTS: Four novel variants in the...

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Vydáno v:Neurology
Hlavní autoři: Bally, Julien F., Camargos, Sarah, Oliveira dos Santos, Camila, Kern, Drew S., Lee, Teresa, Pereira da Silva-Junior, Francisco, Puga, Renato David, Cardoso, Francisco, Barbosa, Egberto Reis, Yadav, Rachita, Ozelius, Laurie J., de Carvalho Aguiar, Patricia, Lang, Anthony E.
Médium: Artigo
Jazyk:Inglês
Vydáno: Lippincott Williams & Wilkins 2021
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC8105968/
https://ncbi.nlm.nih.gov/pubmed/32943487
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/WNL.0000000000010882
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