Xiromerisiou, 2012: 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
GBR
7
n.a.
No
Dystonia, leg
Dystonia, limb
Dystonia, hand
Dystonia, craniofacial
Dystonia, tongue
Dystonia, oromandibular
Dystonia, generalized
Dystonia, axial
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, foot
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Dystonia, leg
p.Arg29*: het
Yes
C
GBR
30
n.a.
No
Dystonia, focal
Torticollis
Dystonia, cervical
Dystonia (any or unspecified)
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n.a.