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Overview of included studies for DYT/PARK-GLB1:
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.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
Chakraborty, 1994
Case report/Case series
2
C
50%
4
p.Thr82Met
+
c.75+2dupT
: comp. het.
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