Isaacs, 2016: Overview of all reported MYC/DYT-SGCE patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
C
n.a.
15
45
Yes
Myoclonus, Upper Limb
Myoclonus, face
Myoclonus
Myoclonus, cervical
Dystonia (any or unspecified)
Dystonia, cervical
Myoclonus, action
Myoclonus, multifocal
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Myoclonus
Dystonia, cervical
c.109+1G>A: het