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