Signs and symptoms
Genes
Methods
Disclaimer
About us
Publications
Contact us
Patients
Users
Database
Login
Overview of included studies for DYT-GNAL:
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.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
Dobričić, 2014
Other/Mixed
1
C
0%
40
p.Val354Ala
: het
Kumar, 2014
Other/Mixed
5
n.a.
33%
35(+/-12)
p.Gly213Ser
: het
p.Ala353Thr
: het
p.Ala311Thr
: het
p.Ile222Ile
: het
p.Cys352Cys
: het
Show more (+2)
Saunders-Pullman, 2014
Mutational screen
1
O
0%
21
p.Val172Ile
: het
Dufke, 2014
Mutational screen
1
C
0%
49
p.Arg245*
: het
Zech, 2014
Mutational screen
1
C
0%
63
p.Val146Met
: het
Miao, 2013
Mutational screen
1
A
0%
41
p.Ser95*
: het
Vemula, 2013
Mutational screen
12
n.a.
18%
45(+/-8)
p.Val228Phe
: het
p.Arg198Thrfs*13
: het
p.Arg245*
: het
p.Met1?
: het
p.Glu12Gly
: het
Show more (+2)
Fuchs, 2013
Mutational screen
28
C
50%
31(+/-12)
p.Val137Met
: het
p.Ser293*
: het
p.Glu155Lys
: het
p.Ser95Tyrfs*16
: het
p.Arg198Thrfs*13
: het
c.274-5T>C
: het
p.Arg21*
: het
p.Pro102_Val104del
: het
Show more (+5)
« First page
‹ Previous
1
2
Show all studies on one page
© University of Lübeck. Last updated on
Dec. 2, 2020. Version: 3.5.95
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.
MDSGene works best with JavaScript enabled. Please follow
these instructions
to activate JavaScript in your web browser.