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, multifocal
Myoclonus, Upper Limb
Myoclonus, face
Myoclonus, cervical
Dystonia (any or unspecified)
Myoclonus
Developmental delay
Myoclonus, action
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Dystonia (any or unspecified)
c.508-1G>C: het