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Overview of included studies for DYT/PARK-PLA2G6:
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.(609+1_610-1)_(1186+1_1187-1)dup
c.(797+1_798-1)_(1077+1_1078-1)del
c.1010T>A
c.1027G>A
c.1039G>A
c.1077G>A
c.1078-3C>A
c.1097T>A
c.109C>T
c.1117G>A
c.1125delA
c.1351delC
c.1354C>T
c.1435C>G
c.1471C>T
c.1495G>A
c.1511C>T
c.1524dupC
c.1547C>T
c.1547_1548dupCG
c.1602G>A
c.1613G>A
c.1626T>A
c.1627C>T
c.1634A>G
c.1640A>G
c.1670C>T
c.1674delG
c.1715C>T
c.1756G>A
c.1765_1768delTCTG
c.1771C>T
c.1772G>A
c.1778C>T
c.1786C>T
c.1798C>T
c.1894C>T
c.1898C>T
c.1903C>T
c.1904G>A
c.1911delC
c.1912G>A
c.1915G>A
c.1933C>T
c.1946G>A
c.1974C>A
c.1982C>T
c.1A>G
c.2017C>T
c.2032A>G
c.2047A>T
c.2065A>T
c.2070_2072delTGT
c.208C>T
c.216C>A
c.2215G>C
c.2218G>A
c.2221C>T
c.2222G>A
c.2233C>T
c.2234G>C
c.2239C>T
c.2321G>T
c.2341G>A
c.2370T>G
c.2375A>C
c.2389C>T
c.238G>A
c.3G>T
c.426_797del372
c.610-1G>T
c.668C>T
c.671T>C
c.673C>T
c.680C>T
c.691G>C
c.707T>A
c.729_740del12
c.758G>T
c.847G>A
c.945_947dupCGC
c.985C>T
c.986G>A
c.991G>T
Country
Afghanistan
China
Dominican Republic
France
Greece
India
Iran
Italy
Japan
Kuwait
Morocco
Pakistan
Portugal
Romania
Saudi Arabia
South Korea
Spain
Tunisia
Turkey
United Kingdom
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Darling, 2019
Case report/Case series
16
n.a.
n.a.
n.a.
p.Phe542Leu
+
p.Arg635*
: comp. het.
p.Gly517Argfs*29
: hom
p.Arg741Trp
+
p.Tyr790*
: comp. het.
p.Gln673*
: hom
p.Ala227Val
: hom
p.Arg635*
: hom
p.Tyr790*
: hom
p.Arg741Trp
: hom
p.Glu547Gly
: hom
p.His479Asp
: comp. het.
p.Ala343Thr
Show more (+8)
+
p.Leu337Gln
: comp. het.
Kamel, 2019
Case report/Case series
1
n.a.
0%
n.a.
p.Asp739His
: hom
Huang, 2018
Case report/Case series
1
n.a.
100%
31
p.Asp331Tyr
+
p.Ser359Ser
: comp. het.
Chen, 2018
Case report/Case series
4
A
75%
28(+/-3)
p.Ser504Leu
+
p.Gly373Arg
: comp. het.
p.Ala639Thr
+
p.Pro223Leu
: comp. het.
p.Asp331Tyr
+
p.Thr661Met
: comp. het.
p.Gly740Arg
: comp. het.
Show more (+1)
Dastsooz, 2017
Case report/Case series
1
n.a.
100%
2
p.Met1Ile
: hom
Wirth, 2017
Case report/Case series
2
C
100%
25(+/-3)
p.Arg37*
+
p.Ser774Ile
: comp. het.
p.Gly253Val
+
p.Ala781Thr
: comp. het.
Ozes, 2017
Other/Mixed
4
n.a.
100%
10(+/-7)
p.Arg747Trp
: hom
p.Leu596Phe
: hom
p.Ser589Thrfs*76
+
p.Ala633Val
: comp. het.
Tello, 2017
Sib pair study
2
n.a.
0%
n.a.
p.Ala227Val
: hom
Michelis, 2017
Case report/Case series
1
n.a.
100%
34
p.Met534Ile
+
p.Arg635*
: comp. het.
Mascalchi, 2017
Sib pair study
2
n.a.
50%
n.a.
p.Arg635*
+
c.(609+1_610-1)_(1186+1_1187-1)dup
: comp. het.
1
2
3
4
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