Xiromerisiou, 2013: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
GRC
55
64
No
Dystonia, craniofacial
Dystonia (any or unspecified)
Blepharospasm
Dystonia, focal
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Blepharospasm
p.Lys70Glu: het