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