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
Dysphonia
Dystonia, arm
Dystonia, foot
Dystonia, hand
Dystonia, leg
Dystonia, laryngeal
Dystonia, limb
Dystonia, craniofacial
Dystonia, tongue
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, generalized
Dystonia, cervical
Dystonia, axial
Dystonia, lower face
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Dystonia, arm
p.Met1?: het
Yes
O
BRA
4
12
Yes
Dystonia, hand
Dystonia, generalized
Dystonia, jaw
Dystonia (any or unspecified)
Dystonia, cervical
Dystonia, lower face
Dystonia, leg
Dystonia, laryngeal
Dystonia, craniofacial
Dystonia, tongue
Dystonia, limb
Dystonia, arm
Dystonia, foot
Dysphonia
Dystonia, axial
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Dystonia, leg
p.Met1?: het