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Overview of included studies for DYT-EIF2AK2:
Click here for summary of patients' characteristics
Click here for summary of genetic findings
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.388G>A
c.388G>C
c.413G>C
c.95A>C
Country
Algeria
Canada
Germany
Israel
Italy
Taiwan
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Magrinelli, 2022
Mutational screen
1
D
100%
17
p.Gly130Arg
: het
Musacchio, 2021
Mutational screen
3
C
0%
2
p.Gly130Arg
: het
Kuipers, 2021
Other/Mixed
10
n.a.
80%
8(+/-6)
p.Gly130Arg
: het
p.Gly138Ala
: het
p.Asn32Thr
: hom
© University of Lübeck. Last updated on
Feb. 11, 2020. Version: 3.5.91
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