https://www.selleckchem.com/pr....oducts/bgb-3245-brim
to report four novel TUBB4A mutations leading to laryngeal and cervical dystonia with frequent generalization. DYT-TUBB4A, formerly known as DYT4, has only been described in one large family and two individual cases. The clinical picture highlighted in the original family comprises laryngeal and cervical dystonia extending to generalized dystonia, plus a "hobby horse" gait disorder. The variant identified as causative in the original family was a heterozygous missense mutation R2G in exon 1 of the TUBB4A gene. we screened
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