Carbon, 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
No
n.a.
n.a.
n.a.
10
42
n.a.
Dystonia, cervical
Myoclonus
Dystonia, upper limb
Dystonia, lower limb
Dystonia (any or unspecified)
Myoclonus, axial
Myoclonus,generalized
Myoclonus, multifocal
Myoclonus, Upper Limb
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n.a.
Yes
n.a.
n.a.
n.a.
3
20
n.a.
Dystonia (any or unspecified)
Myoclonus, lower limb
Myoclonus, multifocal
Myoclonus, axial
Myoclonus, face
Myoclonus, cervical
Myoclonus, Upper Limb
Myoclonus
Myoclonus,generalized
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n.a.
Yes
n.a.
n.a.
n.a.
12
45
n.a.
Myoclonus, Upper Limb
Myoclonus
n.a.
Yes
n.a.
n.a.
n.a.
4
26
n.a.
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus, cervical
Myoclonus, axial
Myoclonus, lower limb
Myoclonus,generalized
Myoclonus
Dystonia, cervical
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n.a.
p.Arg102*: het
Yes
n.a.
n.a.
n.a.
8
27
n.a.
Myoclonus, axial
Myoclonus, multifocal
Myoclonus,generalized
Dystonia, upper limb
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus
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n.a.
No
n.a.
n.a.
n.a.
4
25
n.a.
Dystonia (any or unspecified)
Dystonia, lower limb
Dystonia, upper limb
Myoclonus, Upper Limb
Myoclonus
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n.a.