De Carvalho Aguiar, 2010: Overview of all reported DYT-THAP1 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
O
BRA
6
21
Yes
Dystonia, arm
Dystonia, leg
Dystonia, axial
Dysphonia
Dystonia, tongue
Dystonia, hand
Dystonia, generalized
Dystonia, cervical
Dystonia, jaw
Dystonia, craniofacial
Dystonia, laryngeal
Dystonia (any or unspecified)
Dystonia, limb
Dystonia, lower face
Dystonia, foot
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Dystonia, arm
p.Met1?: het
Yes
O
BRA
4
12
Yes
Dystonia, axial
Dystonia, cervical
Dystonia, tongue
Dystonia, generalized
Dystonia, lower face
Dystonia, jaw
Dystonia, arm
Dystonia, craniofacial
Dystonia, laryngeal
Dystonia, hand
Dystonia (any or unspecified)
Dystonia, leg
Dysphonia
Dystonia, foot
Dystonia, limb
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Dystonia, leg
p.Met1?: het