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