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Overview of included studies for DYT-TOR1A:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
Click here to show world map of all countries
Filter for
all included patients
index patients only
AAO < 50 (adjustable)
AAO >= 50 (adjustable)
females only
males only
homozygous only
heterozygous only
compound heterozygous only
homozygous and compound heterozygous
carrying
definitely pathogenic mutations
probably pathogenic mutations
possibly pathogenic mutations
c.354dupT
c.385G>A
c.40_45delGCGCCG
c.488C>T
c.613T>A
c.692T>A
c.823A>G
c.863G>A
c.907_909delGAG
c.934A>G
c.962C>T
Country
Argentina
Brazil
China
Egypt
France
Germany
India
Iran
Ireland
Israel
Italy
Japan
Poland
Russia
Serbia
South Korea
Spain
Taiwan
Turkey
United Kingdom
United States
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Vidailhet, 2005
Other/Mixed
7
n.a.
57%
8(+/-1)
p.Glu303del
: het
Krause, 2004
Case report/Case series
3
n.a.
100%
8(+/-2)
p.Glu303del
: het
Im, 2004
Mutational screen
5
A
100%
13(+/-6)
p.Glu303del
: het
Padaliya, 2004
Case report/Case series
1
n.a.
100%
7
p.Glu303del
: het
Grosse, 2004
Other/Mixed
12
n.a.
42%
12(+/-6)
p.Glu303del
: het
van den Bos, 2004
Family study
2
n.a.
50%
12(+/-1)
p.Glu303del
: het
Carbon, 2004
Other/Mixed
8
n.a.
n.a.
13(+/-6)
p.Glu303del
: het
Eltahawy, 2004
Case report/Case series
4
n.a.
50%
8(+/-1)
p.Glu303del
: het
Kabakci, 2004
Family study
6
C
50%
18(+/-17)
p.Glu303del
: het
Huang, 2004
Other/Mixed
8
n.a.
50%
10(+/-3)
p.Glu303del
: het
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