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