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Overview of included studies for PARK-ATP13A2:
Click here for summary of patients' characteristics
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.1101_1102dupGA
c.1306+5G>A
c.1510G>C
c.1632_1653dup22
c.2126G>C
c.217dupG
c.2209C>T
c.2366_2367delTC
c.2473delinsAA
c.2525C>T
c.2552_2553delTT
c.2561T>G
c.2572C>T
c.2675G>A
c.2822delG
c.3057delC
c.3176T>G
c.3253delC
c.546C>A
c.774G>A
Country
Afghanistan
Belgium
Brazil
Canada
Chile
China
Greenland
India
Iran
Japan
Jordan
Morocco
Pakistan
Poland
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Pietrzak, 2019
Case report/Case series
1
C
0%
1
p.Gln737*
+
p.Leu789Argfs*15
: comp. het.
McNeil-Gauthier, 2019
Case report/Case series
1
n.a.
100%
n.a.
p.Arg709Thr
: hom
Inzelberg, 2018
Other/Mixed
2
JA
50%
22(+/-8)
p.Tyr1020Thrfs*3
+
p. Val73Glyfs*26
: comp. het.
Abbas, 2017
Case report/Case series
1
n.a.
100%
21
p.Pro842Leu
: hom
Bouhouche, 2017
Other/Mixed
2
n.a.
50%
13(+/-1)
p.Trp258*
: hom
van de Warrenburg, 2016
Other/Mixed
1
n.a.
100%
0
p.Gly892Asp
: hom
Martino, 2015
Other/Mixed
1
n.a.
100%
14
p.Ser941Thrfs*2
: hom
Malakouti-Nejad, 2014
Other/Mixed
3
n.a.
67%
18(+/-11)
p.Gln858*
: hom
Bras, 2012
Family study
3
n.a.
33%
14(+/-2)
p.Met854Arg
: hom
Eiberg, 2012
Family study
5
AM
40%
18(+/-8)
p.Leu825Asnfs*33
: hom
1
2
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Dec. 2, 2020. Version: 3.5.95
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