Dobričić, 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
SRB
7
24
No
Dystonia (any or unspecified)
Dystonia, limb
Myoclonus
Dystonia, segmental/multifocal
Dystonia, arm
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Dystonia, arm
Yes
C
SRB
12
25
No
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, cervical
Dystonia, leg
Dystonia, jaw
Dystonia, lower face
Dystonia, craniofacial
Dystonia, arm
Dystonia, tongue
Dystonia, limb
Dysarthria
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n.a.
p.Ser21Cys: het
Yes
C
SRB
36
40
No
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dysphonia
Dystonia, cervical
Dystonia, laryngeal
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n.a.
p.Arg29*: het
Yes
C
SRB
41
50
No
Dystonia, focal
Anarthria
Dystonia, laryngeal
Dystonia (any or unspecified)
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n.a.
c.-220C>T: het
Yes
C
SRB
7
28
No
Dystonia (any or unspecified)
Dystonia, leg
Dystonia, limb
Dystonia, generalized
Dystonia, arm
Dystonia, axial
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Dystonia, arm
p.Ser21Cys: het
Yes
C
SRB
26
26
No
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, segmental/multifocal
Dystonia, arm
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Dystonia, arm
c.-220C>T: het