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Overview of included studies for DYT/PARK-TH:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
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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. 1493A>G
c.-2188_103-194del
c.-70G>A
c.-71C>T
c.1004C>T
c.1010G>A
c.1045T>C
c.1070+1G>T
c.1071-1_1112delGCCAGCATGGGCACGTGCCCCAGCAGCTCGTGGCAGCAGTCCC
c.1076G>T
c.1083C>A
c.1083C>G
c.1125C>G
c.1127C>T
c.1141-1G>A
c.1145T>C
c.1154C>T
c.1169C>T
c.1181T>C
c.1196C>T
c.1197+25_1397del
c.1197+5G>C
c.1198-24T>A
c.1216G>C
c.1222G>C
c.1240G>A
c.1282G>A
c.1321C>T
c.1322G>C
c.1399A>G
c.1428G>T
c.1451G>A
c.1451G>T
c.1471G>C
c.1475 C>G
c.1481C>T
c.1493A>G
c.1529T>A
c.291delC
c.296delT
c.385C>T
c.457C > T
c.457C>T
c.457C>T,
c.505C>T
c.581-1G>A
c.668C>T
c.694C>T
c.698G > A
c.698G>A
c.707T>C
c.728A>C
c.734G>T
c.736C>T
c.737+8_737+9delGCinsTT
c.738-2A>G
c.738-34G>C
c.739G > A
c.739G>A
c.746C>T
c.752C>T
c.767C>T
c.772G>C
c.817C>T
c.826A>C
c.836G>T
c.880G>C
c.887G>A
c.901C>G
c.926T>C
c.938G>T
c.941C>T
c.943G>A
c.956G>C
c.982C>T
c.983G>A
c1039C>T
Country
Belgium
China
Czech Republic
France
Greece
Guatemala
India
Italy
Japan
Lebanon
Myanmar
Netherlands
Romania
Spain
Taiwan
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Bräutigam, 1998
Case report/Case series
4
C
50%
n.a.
p.Leu99Trpfs*15
+
p.Arg233His
: comp. het.
p.Arg233His
: hom
Lüdecke, 1996
Case report/Case series
1
C
0%
0
p.Leu236Pro
: hom
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