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
Myoclonus, face
Myoclonus,generalized
Myoclonus at rest
Myoclonus, Upper Limb
Myoclonus
Dystonia, cervical
Myoclonus, cervical
Myoclonus, lower limb
Myoclonus, action
Dystonia (any or unspecified)
Myoclonus, axial
Dystonia, upper limb
Dystonia, truncal
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n.a.
Yes
n.a.
C
ITA
5
28
Yes
Myoclonus
Dystonia (any or unspecified)
Myoclonus, action
Dystonia, truncal
Myoclonus, lower limb
Myoclonus,generalized
Dystonia, upper limb
Myoclonus, Upper Limb
Myoclonus, cervical
Myoclonus, axial
Dystonia, cervical
Myoclonus, face
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n.a.
p.Trp270*: het
No
C
ITA
6
48
Yes
Myoclonus, Upper Limb
Myoclonus, action
Myoclonus
n.a.
p.Arg102*: het
Yes
n.a.
C
ITA
2
6
Yes
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus,generalized
Myoclonus, axial
Myoclonus, cervical
Myoclonus at rest
Myoclonus
Dystonia, upper limb
Myoclonus, action
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n.a.
p.Arg102*: het
No
n.a.
C
ITA
1
3
Yes
Myoclonus, cervical
Myoclonus
Myoclonus, multifocal
Myoclonus, Upper Limb
Myoclonus, axial
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n.a.
Yes
n.a.
C
ITA
1
21
Yes
Myoclonus, action
Dystonia (any or unspecified)
Dystonia, cervical
Myoclonus, Upper Limb
Myoclonus, cervical
Myoclonus
Myoclonus,generalized
Dystonia, upper limb
Myoclonus, axial
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n.a.
No
n.a.
C
ITA
1
25
Yes
Myoclonus, cervical
Myoclonus, axial
Myoclonus,generalized
Myoclonus, Upper Limb
Myoclonus
Myoclonus, action
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n.a.
Yes
n.a.
C
ITA
3
8
Yes
Myoclonus, cervical
Writer's Cramp
Myoclonus
Dystonia (any or unspecified)
Myoclonus, action
Myoclonus, face
Myoclonus, Upper Limb
Myoclonus at rest
Myoclonus,generalized
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n.a.
c.663-1G>A: het
No
n.a.
C
ITA
1
18
Yes
Dystonia, upper limb
Myoclonus, action
Myoclonus, axial
Myoclonus,generalized
Dystonia, cervical
Myoclonus, cervical
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus
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n.a.
Yes
n.a.
B
MAR
4
15
Yes
Myoclonus
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus, axial
Myoclonus, cervical
Myoclonus at rest
Myoclonus, action
Writer's Cramp
Myoclonus,generalized
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n.a.
p.Tyr134*: het