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