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