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