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Overview of included studies for DYT/PARK-SLC30A10:
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.1006C>T
c.1046T>C
c.119A>C
c.122_124delCCT
c.1235delA
c.266T>C
c.292_402delGTGGAGGCCGTGCTGCGCCTGGCCCGGCCCGAGCGCATCGATGACCCCGAGCTGGTGCTCATCGTCGGCGTCCTGGGGCTGTTGGTCAACGTGGTGGGGCTGCTCATCTTC
c.314_322delCCCGGCCCG
c.359 G>A
c.460C>T
c.492delC
c.496_553delGCTTTCGGGGGGCCTCAGGGCGCGGAGGACCCGCGGCGCGCGGCGGACCCGACAGCCC
c.500T>C
c.507delG
c.585delG
c.719-5_276+97693
c.765_767delGGT
c.77T>C
c.780_782delCAT
c.90C>G
c.922C>T
c.958+1G>C
Country
Brazil
Canada
Egypt
India
Italy
Netherlands
Pakistan
Philippines
Saudi Arabia
United Arab Emirates
United States
Yemen
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Zaki, 2018
Case report/Case series
10
n.a.
60%
2(+/-3)
c.958+1G>C
: hom
p.Asp40Ala
: hom
p.Ser41del
: hom
p.Tyr30*
: hom
p.Ile260del
: hom
p.Leu26Pro
: hom
Show more (+3)
Gulab, 2018
Case report/Case series
1
n.a.
100%
4
p.Gly120Asp
: hom
Mukhtiar, 2016
Case report/Case series
3
n.a.
100%
8(+/-2)
p.His336Tyr
: hom
Quadri, 2015
Family study
5
I
20%
3(+/-1)
Ala166Glnfs*7
: hom
p.Gly165Alafs*27
: hom
p.Gln154*
: hom
Tuschl, 2012
Family study
13
n.a.
23%
5(+/-4)
c.719-5_*276+97693
: hom
p.Leu89Pro
: hom
p.Val98_Phe134del
: hom
p.Ala105_Pro107del
: hom
p.Thr196Profs*17
: hom
p.Val256del
: hom
p.Gln308*
: hom
p.Leu349Pro
: hom
Show more (+5)
Quadri, 2012
Family study
4
C
100%
30(+/-26)
p.Gln412Argfs*26
: hom
p.Pro170Leufs*22
: hom
p.Phe167Ser
: hom
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