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