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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
Giri, 2019
Family study
2
I
100%
10(+/-0)
p.Glu303del
: het
Iqbal, 2019
Case report/Case series
3
C
67%
28(+/-18)
p.Arg312Gly
: het
p.Arg288Gln
: het
Magrinelli, 2018
Other/Mixed
3
C
33%
28(+/-19)
p.Glu303del
: het
Ma, 2018
Mutational screen
8
A
75%
10(+/-6)
p.Ile119Tyr*9
: het
p.Glu303del
: het
Sadnicka, 2018
Other/Mixed
10
n.a.
40%
15(+/-8)
p.Glu303del
: het
Zech, 2017
Case report/Case series
1
C
0%
15
p.Glu303del
: het
Krause, 2016
Case report/Case series
6
n.a.
50%
8(+/-2)
p.Glu303del
: het
Zech, 2016
Mutational screen
3
C
67%
30(+/-4)
p.Ala163Val
: het
p.Ile231Asn
: het
p.Thr321Met
: het
Ren, 2016
Case report/Case series
1
n.a.
100%
5
p.Glu303del
: het
LeDoux, 2016
Mutational screen
4
n.a.
0%
41(+/-9)
p.Lys275Glu
: het
p.Glu303del
: het
p.Thr321Met
: het
1
2
3
4
5
6
7
8
9
10
…
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Dec. 2, 2020. Version: 3.5.95
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