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Overview of included studies for DYT/PARK-GLB1:
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.1051C>T
c.1061T>G
c.1068+1G>T
c.1150A>T
c.1313G>A
c.1325G>A
c.146G>A
c.1498A>G
c.152T>A
c.152T>C
c.1577dupG
c.217A>G
c.245C>T
c.275G>A
c.319T>C
c.325C>T
c.442C>T
c.518T>C
c.520T>C
c.572G>A
c.601C>T
c.602G>A
c.75+2dupT
c.785G>T
c.931G>A
c.985A>G
Country
Brazil
France
Honduras
Italy
Japan
Romania
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Deodato, 2017
Case report/Case series
3
C
0%
9(+/-10)
c.1068+1G>T
+
p.Arg201His
: comp. het.
p.Ile51Asn
: comp. het.
p.Arg442Gln
+
p.Thr329Ala
: comp. het.
Kannebley, 2015
Case report/Case series
8
n.a.
50%
17
p.Thr500Ala
+
p.Thr384Ser
: comp. het.
p.Arg49His
: comp. het.
p.Arg201His
: comp. het.
p.Gly311Arg
: comp. het.
p.Leu173Pro
+
p.Phe107Leu
: comp. het.
p.Ile354Ser
: comp. het.
Show more (+3)
Takenouchi, 2015
Case report/Case series
2
n.a.
100%
12
p.Arg201Cys
+
p.Tyr174His
: comp. het.
Vieira, 2013
Case report/Case series
1
n.a.
100%
4
p.Gly438Glu
: hom
Pierson, 2012
Case report/Case series
1
n.a.
0%
3
p.Gly262Val
+
p.Arg201His
: comp. het.
Caciotti, 2011
Case report/Case series
4
C
0%
3(+/-1)
p.Ser191Asn
+
p.Arg109Trp
+
p.Arg351*
: comp. het.
p.Ile51Asn
+
p.Arg201His
: comp. het.
p.Gly438Glu
: hom
p.Trp92*
Show more (+1)
+
p.Arg442Gln
: comp. het.
Caciotti, 2005
Case report/Case series
1
n.a.
n.a.
n.a.
p.Arg442Gln
+
p.Thr329Ala
: comp. het.
Roze, 2005
Case report/Case series
4
n.a.
25%
7(+/-6)
p.Arg148Cys
+
p.Lys73Glu
: comp. het.
p.Gly438Glu
: hom
p.Trp527Leufs*5
+
p.Arg49His
: comp. het.
Hirayama, 1997
Case report/Case series
1
n.a.
100%
28
p.Ile51Thr
: hom
Tanaka, 1995
Case report/Case series
1
A
0%
2
p.Ile51Thr
: hom
1
2
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