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Overview of included studies for PxMD-PDHA1:
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
595G>A
c.(1143+1_1144-1)_(1167+1_1168-1)dup
c.(1158+1_1159-1)_(1162+1_1163-1)dup
c.1045G>A
c.1074_1107delins
c.1132C>T
c.1133G>A
c.1156_7insT
c.1163C>A
c.1163_1164insAAGT
c.1163_1164insTTAAGT
c.214C>T
c.224A>C
c.261T>G
c.337C>G
c.367T>C
c.379C>T
c.380G>A
c.412C>T
c.457A>G
c.511-603del
c.511G>A
c.555A>G
c.584G>C
c.592G>A
c.616G>A
c.628A>G
c.647T>C
c.648A>C
c.703A>G
c.728A>C
c.759+26G>A
c.787C>G
c.832G>A
c.857C>T
c.904C>T
c.938_940delAGA
c.947C>T
c.975_976insGGACAGGATGGTGAA
Country
Canada
China
Denmark
Portugal
Turkey
Study
Study design
N cases
Ethnicities
Sex
(%
♂
)
Mean AAO (+/- SD)
Reported mutations
Dong, 2019
Mutational screen
1
A
100%
3
p.Ser388Terfs
: n.a.
Asencio, 2016
Case report/Case series
1
n.a.
100%
0
p.Gly278Arg
: n.a.
Castiglioni, 2015
Case report/Case series
1
C
0%
0
p.Leu216Ser
: het
van Dongen, 2015
Case report/Case series
8
C
63%
2(+/-3)
p.Val171Met
: het
p.Pro316Leu
: het
p.Met210Val
: n.a.
p.Arg378Cys
: n.a.
p.Lys387*
: het
p.Arg263Gly
: n.a.
p.Ile87Met
: n.a.
Show more (+4)
Giribaldi, 2012
Case report/Case series
1
n.a.
100%
3
p.Ala349Thr
: n.a.
Magner, 2011
Case report/Case series
2
C
100%
4(+/-5)
p.Thr286Ile
: n.a.
p.Phe123Leu
: n.a.
Quintana, 2010
Mutational screen
4
n.a.
25%
n.a.
p.His113Asn
: het
p.Ala198Thr
: het
p.Arg302Cys
: het
c.(1143+1_1144-1)_(1167+1_1168-1)dup
: n.a.
Show more (+1)
Barnerias, 2010
Case report/Case series
8
n.a.
75%
0(+/-1)
p.Tyr243Ser
: n.a.
p.Ser312del
: het
p.Arg127Gln
: het
c.759+26G>A
: n.a.
p.Gly185Gly
: n.a.
p.Arg235Gly
: n.a.
p.Arg263Gly
: n.a.
p.Arg72Cys
: n.a.
Show more (+5)
Bachmann-Gagescu, 2009
Case report/Case series
1
n.a.
100%
7
p.Arg263Gly
: n.a.
Ostergaard, 2009
Other/Mixed
3
n.a.
67%
3(+/-0)
p.Met153Val
: n.a.
p.Gly278Arg
: n.a.
p.Glu206Lys
: het
João Silva, 2009
Case report/Case series
1
C
100%
2
p.Arg235Gly
: n.a.
Sedel, 2008
Case report/Case series
1
n.a.
100%
2
p.Glu75Ala
: n.a.
Debray, 2008
Case report/Case series
2
n.a.
100%
2(+/-1)
p.Gly195Ala
: n.a.
Okajima, 2006
Case report/Case series
1
n.a.
100%
0
p.Val171Argfs*52
: n.a.
Head, 2004
Case report/Case series
2
C
50%
5(+/-1)
p.Arg72Cys
: n.a.
p.Arg378His
: het
Cameron, 2004
Case report/Case series
6
n.a.
83%
n.a.
c.(1158+1_1159-1)_(1162+1_1163-1)dup
: n.a.
p.Leu138Phe
: n.a.
p.Gly195Ala
: n.a.
p.Arg302Cys
: het
Show more (+1)
Miné, 2003
Case report/Case series
1
n.a.
100%
1
c.759+26G>A
: n.a.
Naito, 2002
Case report/Case series
1
n.a.
100%
2
p.Leu216Phe
: n.a.
De Meirleir, 1998
Case report/Case series
1
n.a.
100%
2
c.1074_1107delins
: n.a.
Fujii, 1996
Case report/Case series
2
n.a.
100%
1
c.975_976insGGACAGGATGGTGAA
: n.a.
p.S388ins
: n.a.
Chun, 1995
Case report/Case series
5
n.a.
100%
n.a.
p.Gln389Serfs*9
: n.a.
p.Arg263Gly
: n.a.
p.Arg72Cys
: n.a.
Fujii, 1994
Family study
1
n.a.
0%
n.a.
p.Arg127Trp
: het
De Meirleir, 1994
Family study
1
n.a.
100%
2
p.Gly185Gly
: n.a.
Chun, 1993
Case report/Case series
2
n.a.
100%
n.a.
p.Ala199Thr
: n.a.
p.Arg263Gly
: n.a.
Wexler, 1992
Case report/Case series
2
n.a.
100%
2(+/-0)
p.Arg235Gly
: n.a.
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