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Article

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

Neurology - 6 Apr 2021

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

Abstract excerpt

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 TUBB4A gene have been identified: D295N, R46M, Q424H, and R121W. In silico modeling showed that all variants have...

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Identifiers

PMID: 32943487
DOI: 10.1212/WNL.0000000000010882
PMCID: PMC8105968

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