Groen, 2011: 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
NLD
14
35
No
Dystonia,task-specific
Dystonia, craniofacial
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, tongue
Dystonia, oromandibular
Dysphonia
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n.a.
p.Ser51Gly: het