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