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