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