Groen, 2014: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
n.a.
13
n.a.
Yes
Dystonia, axial
Dystonia, arm
Dystonia, limb
Dystonia, cervical
Dystonia, segmental/multifocal
Dystonia, hand
Dystonia, laryngeal
Dystonia (any or unspecified)
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Dystonia, arm
p.Gln167*: het
Yes
n.a.
n.a.
23
36
No
Dystonia, cervical
Dystonia, laryngeal
Dystonia, hand
Dystonia,task-specific
Dystonia, arm
Dystonia (any or unspecified)
Dystonia, segmental/multifocal
Dystonia, axial
Dystonia, limb
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n.a.
c.72-1G>A: het