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