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