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Overview of included studies for DYT-SGCE:
Click here for summary of patients' characteristics
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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. 289C>T
c.(109+1_110-1)_(1372+1_1373-1)del
c.(109+1_110-1)_(232+1_233-1)del
c.(109+1_110-1)_(662+1_663-1)del
c.(1253+1_1254-1)_(1328+1_1329-1)del
c.(1328+1_1329-1)_(1372+1_1373-1)del
c.(390+1_391-1)_(1064+1_1065-1)del
c.(390+1_391-1)_(662+1_663-1)del
c.(463+1_464-1)_(662+1_663-1)del
c.(662+1_663-1)_(1253+1_1254-1)del
c.(662+1_663-1)_(825+1_826-1)del
c.101T>C
c.1037+2T>C
c.1037+5G>A
c.1037+5G>C
c.1058_1062delCACCA
c.107C>G
c.109+1G>A
c.109+1G>T
c.1114C>T
c.1151delT
c.158C>G
c.179A>C
c.179A>G
c.193G>T
c.198_199insGAGAATA
c.208G>T
c.221delA
c.222C>A
c.232 +2T>C
c.232+1G>A
c.232+1G>T
c.233-1G>A
c.233-1G>T
c.256delA
c.275T>C
c.286G>A
c.289C>T
c.298T>G
c.300G>A
c.304C>T
c.305G>C
c.334G>A
c.344A>G
c.347G>A
c.360delT
c.386T>C
c.391-3T>C
c.402C>A
c.416_419delTTGA
c.444_447delTAAT
c.444delT
c.481C>T
c.524_529delTGGCCAinsCGGCCT
c.524_531delTGGCCAGT
c.539_593del
c.549_552delTCTT
c.551T>C
c.564_576delAAATGTGTGGCAG
c.619_620delAG
c.619delA
c.623delG
c.625insG
c.626dupG
c.627_628insGGGGTGGC
c.639dupT
c.662+1insG
c.662G>A
c.663-1G>A
c.680G>T
c.697delT
c.709C>T
c.734_737delAATT
c.742_745dupTGTA
c.766_767delAT
c.771_772delAT
c.783delA
c.783dupA
c.788dupA
c.808T>C
c.810G>A
c.812G>A
c.825+1_825+2delGT
c.826-1G>A
c.832_836delAAAAC
c.835-839delACAAA
c.841C>T
c.841delA
c.842delA
c.856C>T
c.885insT
c.931delA
c.940delT
c.942C>A
c.946delG
c.966delT
c.974_977delCGGC
c.974delC
Country
Australia
Belgium
Brazil
China
Denmark
France
Germany
Hungary
India
Iran
Ireland
Italy
Japan
Morocco
Netherlands
Samoa
Serbia
South Korea
Taiwan
United Kingdom
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Isaacs, 2016
Case report/Case series
1
C
100%
15
c.109+1G>A
: het
Ghosh, 2016
Case report/Case series
1
n.a.
100%
2
p.Arg97*
: het
Sun, 2016
Case report/Case series
2
A
50%
12(+/-11)
p.Glu121Lysfs*11
: het
Rocha, 2016
Case report/Case series
1
n.a.
100%
2
p.Ser53*
: het
Multani, 2016
Case report/Case series
1
n.a.
0%
3
c.(109+1_110-1)_(662+1_663-1)del
: het
Drivenes, 2015
Case report/Case series
1
n.a.
0%
3
c.(390+1_391-1)_(1064+1_1065-1)del
: het
Wada, 2015
Case report/Case series
1
n.a.
100%
3
c.109+1G>T
: het
Luciano, 2014
Sib pair study
2
n.a.
50%
n.a.
c.(390+1_391-1)_(662+1_663-1)del
: het
Bonello, 2014
Case report/Case series
1
n.a.
100%
19
p.Tyr74*
: het
Cilia, 2014
Case report/Case series
1
n.a.
0%
70
p.Thr353Argfs*24
: het
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Dec. 2, 2020. Version: 3.5.95
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