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, limb
Dystonia, hand
Dystonia, laryngeal
Dystonia, cervical
Dystonia, arm
Dystonia, segmental/multifocal
Dystonia, axial
Dystonia (any or unspecified)
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Dystonia, arm
p.Gln167*: het
Yes
n.a.
n.a.
23
36
No
Dystonia, hand
Dystonia, axial
Dystonia, arm
Dystonia, segmental/multifocal
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, laryngeal
Dystonia,task-specific
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n.a.
c.72-1G>A: het