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Overview of included studies for ATX-TBP:
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
Country
Belgium
China
Denmark
Finland
France
Germany
Greece
India
Ireland
Italy
Japan
Mexico
South Korea
Spain
Taiwan
Thailand
United Kingdom
United States
Zimbabwe
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Loy, 2005
Case report/Case series
1
C
0%
42
: het
Zühlke, 2005
Family study
2
C
50%
46(+/-6)
: het
Juvonen, 2005
Mutational screen
1
n.a.
n.a.
n.a.
: het
Shatunov, 2004
Case report/Case series
1
AM
0%
20
: het
Bruni, 2004
Family study
7
n.a.
29%
32(+/-11)
: het
Günther, 2004
Case report/Case series
1
n.a.
100%
30
: het
Cellini, 2004
Mutational screen
1
n.a.
n.a.
n.a.
: het
Brusco, 2004
Mutational screen
3
n.a.
67%
41
: het
Bauer, 2004
Mutational screen
7
C
71%
39(+/-9)
: het
Hagenah, 2004
Family study
4
n.a.
0%
26(+/-8)
: het
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