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