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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
Akbari, 2012
Mutational screen
10
A
50%
9(+/-2)
p.Glu303del
: het
Kojovic, 2012
Case report/Case series
1
n.a.
100%
13
p.Glu303del
: het
Cif, 2012
Case report/Case series
8
n.a.
50%
n.a.
p.Glu303del
: het
Ruge, 2011
Other/Mixed
10
n.a.
30%
9(+/-4)
p.Glu303del
: het
Haridas, 2011
Case report/Case series
17
n.a.
76%
8(+/-2)
p.Glu303del
: het
Cheng, 2011
Mutational screen
4
A
50%
19(+/-8)
p.Glu303del
: het
De Carvalho Aguiar, 2010
Mutational screen
2
C
100%
8
p.Glu303del
: het
Alcindor, 2010
Case report/Case series
1
n.a.
100%
16
p.Glu303del
: het
Mehrkens, 2010
Case report/Case series
3
n.a.
33%
9(+/-3)
p.Glu303del
: het
Carbon, 2010
Other/Mixed
11
n.a.
n.a.
10(+/-3)
p.Glu303del
: het
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