Marcé-Grau, 2019: Overview of all reported DYT-KCTD17 patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
ARG
n.a.
19
No
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus, face
Myoclonus, action
Myoclonus, multifocal
Myoclonus
Myoclonus, cervical
Developmental delay
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Dystonia (any or unspecified)
c.508-1G>C: het