Szubiga, 2013: 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
n.a.
n.a.
14
52
Yes
Myoclonus,generalized
Myoclonus, axial
Myoclonus
Myoclonus, face
Myoclonus, Upper Limb
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Myoclonus, face
Myoclonus, Upper Limb
Asp96Asn: het
Yes
n.a.
n.a.
2
29
Yes
Myoclonus, cervical
Myoclonus, axial
Sleep benefit
Myoclonus, face
Myoclonus, Upper Limb
Myoclonus at rest
Dystonia, cervical
Myoclonus,generalized
Myoclonus, action
Dystonia (any or unspecified)
Myoclonus
Dystonia, upper limb
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Myoclonus, cervical
Myoclonus, axial
Myoclonus, face
Asp96Asn: het
Yes
n.a.
n.a.
38
41
No
Tremor (any or unspecified)
Myoclonus
Dystonia (any or unspecified)
Dystonia, cervical
Myoclonus, lower limb
Myoclonus, Upper Limb
Dystonia, upper limb
Myoclonus, multifocal
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Tremor (any or unspecified)
Dystonia, cervical
Myoclonus, lower limb
Asp96Asn: het