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