Tezenas du Montcel, 2006: Overview of all reported DYT-SGCE patients

Index patient Sex Ethnicity Country of origin AAO AAE Family history Symptoms Initial symptoms Reported mutations
No
C
FRA
4
30
Yes
Myoclonus, axial
Myoclonus
Myoclonus, cervical
Myoclonus
No
C
FRA
n.a.
68
Yes
Myoclonus
Myoclonus, face
Myoclonus
Yes
C
FRA
n.a.
46
n.a.
Dystonia (any or unspecified)
Myoclonus, multifocal
Myoclonus, Upper Limb
Myoclonus
Myoclonus, cervical
Dystonia, lower limb
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Myoclonus
Yes
C
FRA
3
20
n.a.
Dystonia (any or unspecified)
Myoclonus
Myoclonus, cervical
Dystonia, upper limb
Myoclonus, Upper Limb
Dystonia, cervical
Myoclonus, lower limb
Myoclonus, multifocal
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Dystonia (any or unspecified)
p.Asn149*: het
No
C
FRA
6
27
Yes
Myoclonus,generalized
Myoclonus, face
Myoclonus
Myoclonus, axial
Myoclonus, cervical
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Myoclonus
p.Asn149*: het
No
C
FRA
12
19
Yes
Myoclonus, Upper Limb
Dystonia, upper limb
Dystonia (any or unspecified)
Myoclonus, cervical
Dystonia, cervical
Myoclonus
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Dystonia (any or unspecified)
Yes
C
FRA
n.a.
43
Yes
Myoclonus
Myoclonus
p.Arg372*: het
Yes
C
FRA
3
29
n.a.
Myoclonus, Upper Limb
Dystonia (any or unspecified)
Myoclonus
Myoclonus, lower limb
Myoclonus, cervical
Dystonia, upper limb
Myoclonus, multifocal
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Myoclonus
Yes
C
FRA
3
20
n.a.
Myoclonus,generalized
Myoclonus, Upper Limb
Myoclonus, lower limb
Myoclonus, cervical
Myoclonus
Myoclonus, axial
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Myoclonus
p.Trp100*: het
No
C
FRA
24
25
Yes
Myoclonus
Myoclonus,generalized
Myoclonus, cervical
Myoclonus, axial
Myoclonus, Upper Limb
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Myoclonus