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