Another Twist in the Tale: Intrafamilial Phenotypic Heterogeneity in ANO3-Related Dystonia.
Vanessa CarvalhoJoana MartinsFilipe CorreiaManuela CostaJoão MassanoTeresa TemudoPublished in: Movement disorders clinical practice (2021)
ANO3 mutations usually present with craniocervical dystonia and rarely generalized or leg dystonia. This family exemplifies the heterogeneous presentation of this disorder as well as a wide phenotypic variability within the same family.