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