Marcé-Grau, 2019: Overview of all reported MYC/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
Dystonia (any or unspecified)
Myoclonus, action
Developmental delay
Myoclonus, face
Myoclonus, multifocal
Myoclonus
Myoclonus, Upper Limb
Myoclonus, cervical
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Dystonia (any or unspecified)
c.508-1G>C: het