Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

doi:10.1002/ana.23829

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Article

Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the TUBB4 gene.

Annals of neurology - 1 Apr 2013

Lohmann Katja, Wilcox Robert A, Winkler Susen, Ramirez Alfredo, Rakovic Aleksandar, Park Jin-Sung, Arns Björn, Lohnau Thora, Groen Justus, Kasten Meike, Brüggemann Norbert, Hagenah Johann, Schmidt Alexander, Kaiser Frank J, Kumar Kishore R, Zschiedrich Katja, Alvarez-Fischer Daniel, Altenmüller Eckart, Ferbert Andreas, Lang Anthony E, Münchau Alexander, Kostic Vladimir, Simonyan Kristina, Agzarian Marc, Ozelius Laurie J, Langeveld Antonius P M, Sue Carolyn M, Tijssen Marina A J, Klein Christine

Abstract excerpt

OBJECTIVE: A study was undertaken to identify the gene underlying DYT4 dystonia, a dominantly inherited form of spasmodic dysphonia combined with other focal or generalized dystonia and a characteristic facies and body habitus, in an Australian family. METHODS: Genome-wide linkage analysis was carried out in 14 family members followed by genome sequencing in 2 individuals. The index patient underwent a detailed...

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PMID: 23595291
DOI: 10.1002/ana.23829
PMCID: PMC6956988

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