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