Article
A novel ANO3 variant in two siblings with different phenotypes.
Parkinsonism & related disorders - 1 Jun 2023
Esposito Marcello, Trinchillo Assunta, Piceci-Sparascio Francesca, D'Asdia Maria Cecilia, Consoli Federica, De Luca Alessandro
Abstract excerpt
INTRODUCTION: Dystonia type 24 is due to the mutation of the ANO3 gene. It generally consists of craniocervical dystonia associated with tremor; however, other neurological manifestations may also occur. Scientific literature has been expanding on its phenotype over the past few years. CASE: Here we present two siblings affected by dystonia 24 associated to a novel missense mutation of the ANO3 gene. Description...
Topics
Join the communities discussing this publication.