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