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Overview of included studies for DYT-GNAL:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
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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.1018G>A
c.1055G>A
c.1056C>T
c.1057G>A
c.1059C>T
c.1060G>A
c.1061T>C
c.139C>A
c.15C>T
c.166dupA
c.274-5T>C
c.283_284insA
c.284C>A
c.289A>G
c.304_312delCCTCCAGTT
c.30G>T
c.35A>G
c.399C>A
c.3G>A
c.409G>A
c.40C>T
c.413A>G
c.436G>A
c.44G>A
c.463G>A
c.514G>A
c.591dupA
c.61C>T
c.628G>A
c.637G>A
c.666C>T
c.682G>T
c.700G>A
c.733C>T
c.878C>A
c.931G>A
Country
Austria
China
Germany
India
Italy
Japan
Portugal
Serbia
South Korea
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Ahn, 2019
Other/Mixed
1
A
100%
12
p.Val354Met
: het
Geoghegan, 2019
Family study
2
n.a.
0%
2
p.Lys138Arg
: het
Pandey, 2019
Case report/Case series
1
I
0%
47
p.Cys352Tyr
: het
LeDoux, 2016
Mutational screen
5
n.a.
20%
41(+/-21)
p.Gln14*
: het
p.Leu47Ile
: het
p.Gly340Ser
: het
p.Val354Met
: het
Show more (+1)
Putzel, 2016
Mutational screen
1
C
100%
36
p.Val234Ile
: het
Dos Santos, 2016
Mutational screen
1
C
0%
23
p.Phe133Leu
: het
Carecchio, 2016
Family study
4
C
50%
45(+/-11)
p.Asp210Asn
: het
Zech, 2015
Mutational screen
1
C
0%
55
c.274-5T>C
: het
Ma, 2015
Mutational screen
5
A
20%
37(+/-13)
p.Gly5Gly
: het
p.Thr10Thr
: het
p.Gly15Asp
: het
p.Ala353Ala
: het
Show more (+1)
Ziegan, 2014
Mutational screen
2
C
0%
45(+/-13)
p.Met97Val
: het
p.Ser56Lysfs*16
: het
1
2
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