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 (any or unspecified)
Dystonia, arm
Dystonia, axial
Dystonia, laryngeal
Dystonia, cervical
Dystonia, segmental/multifocal
Dystonia, hand
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Dystonia, arm
p.Gln167*: het
Yes
n.a.
n.a.
23
36
No
Dystonia, cervical
Dystonia (any or unspecified)
Dystonia, hand
Dystonia, limb
Dystonia,task-specific
Dystonia, segmental/multifocal
Dystonia, laryngeal
Dystonia, arm
Dystonia, axial
Show more (+6)
n.a.
c.72-1G>A: het