Nardocci, 2008: Overview of all reported MYC/DYT-SGCE patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
Yes
n.a.
C
ITA
6
19
Yes
Dystonia, cervical
Myoclonus, face
Dystonia, upper limb
Myoclonus, cervical
Dystonia (any or unspecified)
Myoclonus, Upper Limb
Myoclonus, action
Myoclonus, lower limb
Myoclonus,generalized
Myoclonus at rest
Myoclonus, axial
Dystonia, truncal
Myoclonus
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n.a.
Yes
n.a.
C
ITA
5
28
Yes
Dystonia (any or unspecified)
Dystonia, upper limb
Myoclonus, action
Dystonia, truncal
Myoclonus,generalized
Myoclonus, axial
Dystonia, cervical
Myoclonus
Myoclonus, Upper Limb
Myoclonus, face
Myoclonus, lower limb
Myoclonus, cervical
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n.a.
p.Trp270*: het
No
C
ITA
6
48
Yes
Myoclonus, action
Myoclonus, Upper Limb
Myoclonus
n.a.
p.Arg102*: het
Yes
n.a.
C
ITA
2
6
Yes
Myoclonus, cervical
Dystonia (any or unspecified)
Myoclonus,generalized
Myoclonus, Upper Limb
Myoclonus, action
Myoclonus
Myoclonus, axial
Dystonia, upper limb
Myoclonus at rest
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n.a.
p.Arg102*: het
No
n.a.
C
ITA
1
3
Yes
Myoclonus
Myoclonus, multifocal
Myoclonus, cervical
Myoclonus, axial
Myoclonus, Upper Limb
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n.a.
Yes
n.a.
C
ITA
1
21
Yes
Dystonia (any or unspecified)
Myoclonus
Myoclonus, action
Dystonia, upper limb
Dystonia, cervical
Myoclonus, Upper Limb
Myoclonus, cervical
Myoclonus, axial
Myoclonus,generalized
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n.a.
No
n.a.
C
ITA
1
25
Yes
Myoclonus, axial
Myoclonus,generalized
Myoclonus
Myoclonus, cervical
Myoclonus, action
Myoclonus, Upper Limb
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n.a.
Yes
n.a.
C
ITA
3
8
Yes
Writer's Cramp
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus, face
Myoclonus
Myoclonus,generalized
Myoclonus, action
Myoclonus, cervical
Myoclonus at rest
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n.a.
c.663-1G>A: het
No
n.a.
C
ITA
1
18
Yes
Myoclonus, axial
Myoclonus,generalized
Dystonia (any or unspecified)
Dystonia, cervical
Myoclonus
Myoclonus, action
Myoclonus, Upper Limb
Myoclonus, cervical
Dystonia, upper limb
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n.a.
Yes
n.a.
B
MAR
4
15
Yes
Myoclonus
Myoclonus, action
Myoclonus at rest
Myoclonus, axial
Myoclonus, Upper Limb
Myoclonus, cervical
Myoclonus,generalized
Dystonia (any or unspecified)
Writer's Cramp
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n.a.
p.Tyr134*: het